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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   ARSB_chr5_78772209_78990310  ARSB_chr5_78772209_78990310 (clean+top1000)

Multiple Alignments (by translate haplotype frequency)Multiple Alignments (by aa haplotype frequency) Multiple Alignments (by translate haplotype similarity)Multiple Alignments (by aa haplotype similarity)

Item Value
geneid 411
ensemblid ENSG00000113273.17
hgncid 714
symbol ARSB
name arylsulfatase B
refseq_nuc NM_000046.5
refseq_prot NP_000037.2
ensembl_nuc ENST00000264914.10
ensembl_prot ENSP00000264914.4
mane_status MANE Select
chr chr5
start 78777209
end 78985310
strand -
ver v1.2
region chr5:78777209-78985310
region5000 chr5:78772209-78990310
regionname0 ARSB_chr5_78777209_78985310
regionname5000 ARSB_chr5_78772209_78990310

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 1/0 533 222 78 29 89 6 19 65 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0002 0/1 533 100 5 19 60 7 8 43 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0003 0/0 533 29 4 12 2 2 9 1 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0004 0/0 533 6 0 3 0 1 2 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0005 0/0 533 1 1 0 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0006 0/0 533 1 0 0 1 0 0 1 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0007 0/0 533 1 0 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 1/0 1602 130 17 20 77 2 13 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
c0002 0/1 1602 96 5 18 60 5 7 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
c0003 0/0 1602 67 38 8 12 4 5 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
c0004 0/0 1602 28 4 12 2 2 8 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
c0005 0/0 1602 11 11 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
c0006 0/0 1602 6 0 3 0 1 2 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
c0007 0/0 1602 4 3 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
c0008 0/0 1602 2 2 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
c0009 0/0 1602 2 2 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
c0010 0/0 1602 2 0 0 0 2 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
c0011 0/0 1602 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
c0012 0/0 1602 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
c0013 0/0 1602 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
c0014 0/0 1602 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
c0015 0/0 1602 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
c0016 0/0 1602 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
c0017 0/0 1602 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
c0018 0/0 1602 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
c0019 0/0 1602 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
c0020 0/0 1602 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
c0021 0/0 1602 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
c0022 0/0 1602 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 1/0 3251 47 0 8 26 4 8 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0002 0/0 3253 45 19 7 18 1 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0003 0/0 3253 40 2 4 25 2 7 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0004 0/0 3251 18 4 3 7 0 4 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0005 0/0 3251 17 1 5 11 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0006 0/1 3251 17 10 3 1 1 1 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0007 0/0 3251 13 5 3 3 0 2 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0008 0/0 3253 13 3 2 7 1 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0009 0/0 3253 11 0 2 9 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0010 0/0 3250 8 0 2 3 1 2 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0011 0/0 3251 8 0 0 8 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0012 0/0 3251 7 4 2 1 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0013 0/0 3252 7 1 1 5 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0014 0/0 3252 5 0 2 2 0 1 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0015 0/0 3252 5 0 0 3 0 2 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0016 0/0 3253 5 3 0 0 1 1 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0017 0/0 3253 5 4 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0018 0/0 3250 4 3 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0019 0/0 3251 4 0 0 4 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0020 0/0 3251 3 0 0 3 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0021 0/0 3251 3 0 0 3 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0022 0/0 3251 3 2 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0023 0/0 3252 3 0 2 0 1 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0024 0/0 3252 3 0 2 0 0 1 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0025 0/0 3251 3 0 1 2 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0026 0/0 3252 2 0 1 0 0 1 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0027 0/0 3254 2 2 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0028 0/0 3254 2 2 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0029 0/0 3251 2 0 0 0 0 2 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0030 0/0 3253 2 0 0 2 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0031 0/0 3252 2 2 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0032 0/0 3251 2 1 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0033 0/0 3252 2 0 2 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0034 0/0 3252 2 2 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0035 0/0 3254 2 2 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0036 0/0 3252 2 2 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0037 0/0 3253 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0038 0/0 3251 1 0 0 0 1 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0039 0/0 3252 1 0 0 0 1 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0040 0/0 3251 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0041 0/0 3253 1 0 0 0 1 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0042 0/0 3252 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0043 0/0 3253 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0044 0/0 3254 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0045 0/0 3251 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0046 0/0 3251 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0047 0/0 3252 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0048 0/0 3251 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0049 0/0 3251 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0050 0/0 3252 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0051 0/0 3250 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0052 0/0 3251 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0053 0/0 3251 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0054 0/0 3252 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0055 0/0 3253 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0056 0/0 3253 1 0 0 0 1 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0057 0/0 3254 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0058 0/0 3251 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0059 0/0 3250 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0060 0/0 3254 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0061 0/0 3254 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0062 0/0 3251 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0063 0/0 3253 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0064 0/0 3252 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0065 0/0 3251 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0066 0/0 3252 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0067 0/0 3252 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0068 0/0 3253 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0069 0/0 3250 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0070 0/0 3251 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0071 0/0 3251 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0072 0/0 3253 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0073 0/0 3254 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0074 0/0 3252 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0075 0/0 3251 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0076 0/0 3252 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
t0077 0/0 3251 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 2 0 2 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0002 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0003 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0004 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0005 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0006 0/0 1 0 0 0 1 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0007 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0008 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0009 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0010 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0011 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0012 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0013 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0014 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0015 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0016 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0017 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0018 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0019 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0020 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0021 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0022 0/0 1 0 0 0 1 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0023 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0024 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0025 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0026 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0027 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0028 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0029 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0030 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0031 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0032 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0033 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0034 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0035 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0036 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0037 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0038 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0039 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0040 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0041 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0042 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0043 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0044 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0045 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0046 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0047 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0048 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0049 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0050 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0051 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0052 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0053 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0054 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0055 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0056 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0057 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0058 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0059 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0060 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0061 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0062 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0063 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0064 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0065 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0066 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0067 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0068 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0069 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0070 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0071 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0072 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0073 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0074 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0075 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0076 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0077 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0078 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0079 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0080 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0081 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0082 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0083 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0084 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0085 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0086 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0087 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0088 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0089 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0090 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0091 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0092 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0093 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0094 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0095 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0096 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0097 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0098 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0099 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0100 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0101 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0102 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0103 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0104 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0105 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0106 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0107 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0108 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0109 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0110 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0111 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0112 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0113 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0114 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0115 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0116 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0117 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0118 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0119 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0120 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0121 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0122 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0123 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0124 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0125 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0126 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0127 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0128 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0129 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0130 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0131 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0132 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0133 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0134 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0135 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0136 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0137 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0138 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0139 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0140 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0141 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0142 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0143 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0144 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0145 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0146 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0147 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0148 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0149 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0150 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0151 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0152 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0153 0/0 1 0 0 0 1 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0154 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0155 0/0 1 0 0 0 1 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0156 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0157 0/0 1 0 0 0 1 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0158 0/0 1 0 0 0 1 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0159 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0160 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0161 0/0 1 0 0 0 1 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0162 0/0 1 0 0 0 1 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0163 0/0 1 0 0 0 1 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0164 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0165 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0166 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0167 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0168 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0169 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0170 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0171 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0172 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0173 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0174 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0175 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0176 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0177 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0178 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0179 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0180 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0181 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0182 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0183 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0184 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0185 0/0 1 0 0 0 1 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0186 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0187 0/0 1 0 0 0 1 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0188 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0189 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0190 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0191 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0192 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0193 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0194 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0195 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0196 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0197 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0198 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0199 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0200 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0201 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0202 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0203 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0204 0/0 1 0 0 0 1 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0205 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0206 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0207 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0208 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0209 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0210 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0211 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0212 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0213 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0214 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0215 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0216 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0217 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0218 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0219 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0220 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0221 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0222 1/0 1 0 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0223 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0224 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0225 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0226 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0227 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0228 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0229 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0230 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0231 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0232 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0233 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0234 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0235 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0236 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0237 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0238 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0239 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0240 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0241 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0242 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0243 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0244 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0245 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0246 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0247 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0248 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0249 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0250 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0251 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0252 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0253 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0254 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0255 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0256 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0257 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0258 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0259 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0260 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0261 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0262 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0263 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0264 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0265 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0266 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0267 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0268 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0269 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0270 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0271 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0272 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0273 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0274 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0275 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0276 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0277 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0278 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0279 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0280 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0281 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0282 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0283 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0284 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0285 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0286 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0287 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0288 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0289 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0290 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0291 0/0 1 0 0 0 1 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0292 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0293 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0294 0/1 1 0 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0295 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0296 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0297 0/0 1 0 0 0 1 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0298 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0299 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0300 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0301 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0302 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0303 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0304 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0305 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0306 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0307 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0308 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0309 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0310 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0311 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0312 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0313 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0314 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0315 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0316 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0317 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0318 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0319 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0320 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0321 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0322 0/0 1 0 0 0 1 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0323 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0324 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0325 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0326 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0327 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0328 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0329 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0330 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0331 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0332 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0333 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0334 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0335 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0336 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0337 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0338 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0339 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0340 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0341 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0342 0/0 1 0 0 0 1 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0343 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0344 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0345 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0346 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0347 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0348 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0349 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0350 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0351 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0352 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0353 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0354 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0355 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0356 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0357 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0358 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
g0359 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 1/0 1602 130 17 20 77 2 13 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0003 0/0 1602 67 38 8 12 4 5 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0005 0/0 1602 11 11 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0007 0/0 1602 4 3 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0008 0/0 1602 2 2 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0009 0/0 1602 2 2 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0015 0/0 1602 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0017 0/0 1602 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0018 0/0 1602 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0019 0/0 1602 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0021 0/0 1602 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0022 0/0 1602 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0002c0002 0/1 1602 96 5 18 60 5 7 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0002c0010 0/0 1602 2 0 0 0 2 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0002c0011 0/0 1602 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0002c0013 0/0 1602 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0003c0004 0/0 1602 28 4 12 2 2 8 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0003c0014 0/0 1602 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0004c0006 0/0 1602 6 0 3 0 1 2 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0005c0016 0/0 1602 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0006c0020 0/0 1602 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0007c0012 0/0 1602 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 1/0 4852 24 0 5 16 0 2 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0001t0002 0/0 4854 13 5 0 8 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0001t0003 0/0 4854 19 1 1 14 0 3 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0001t0004 0/0 4852 9 3 0 4 0 2 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0001t0005 0/0 4852 10 0 4 6 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0001t0006 0/0 4852 2 2 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0001t0007 0/0 4852 4 1 2 0 0 1 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0001t0008 0/0 4854 10 1 2 6 1 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0001t0009 0/0 4854 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0001t0010 0/0 4851 7 0 2 3 0 2 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0001t0011 0/0 4852 5 0 0 5 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0001t0013 0/0 4853 3 0 0 3 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0001t0014 0/0 4853 2 0 1 0 0 1 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0001t0018 0/0 4851 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0001t0019 0/0 4852 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0001t0020 0/0 4852 3 0 0 3 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0001t0021 0/0 4852 3 0 0 3 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0001t0024 0/0 4853 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0001t0025 0/0 4852 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0001t0031 0/0 4853 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0001t0034 0/0 4853 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0001t0037 0/0 4854 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0001t0039 0/0 4853 1 0 0 0 1 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0001t0040 0/0 4852 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0001t0043 0/0 4854 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0001t0044 0/0 4855 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0001t0047 0/0 4853 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0001t0051 0/0 4851 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0001t0059 0/0 4851 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0001t0065 0/0 4852 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0003t0001 0/0 4852 5 0 0 3 0 2 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0003t0002 0/0 4854 17 10 4 2 1 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0003t0003 0/0 4854 2 0 0 2 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0003t0005 0/0 4852 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0003t0006 0/0 4852 6 5 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0003t0007 0/0 4852 4 3 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0003t0008 0/0 4854 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0003t0009 0/0 4854 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0003t0010 0/0 4851 1 0 0 0 1 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0003t0012 0/0 4852 5 4 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0003t0014 0/0 4853 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0003t0015 0/0 4853 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0003t0016 0/0 4854 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0003t0018 0/0 4851 2 2 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0003t0022 0/0 4852 2 1 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0003t0025 0/0 4852 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0003t0027 0/0 4855 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0003t0028 0/0 4855 2 2 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0003t0031 0/0 4853 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0003t0034 0/0 4853 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0003t0035 0/0 4855 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0003t0041 0/0 4854 1 0 0 0 1 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0003t0046 0/0 4852 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0003t0048 0/0 4852 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0003t0056 0/0 4854 1 0 0 0 1 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0003t0058 0/0 4852 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0003t0060 0/0 4855 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0003t0061 0/0 4855 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0003t0069 0/0 4851 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0003t0070 0/0 4852 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0003t0073 0/0 4855 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0005t0013 0/0 4853 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0005t0017 0/0 4854 4 4 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0005t0032 0/0 4852 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0005t0035 0/0 4855 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0005t0036 0/0 4853 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0005t0074 0/0 4853 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0005t0075 0/0 4852 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0005t0076 0/0 4853 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0007t0004 0/0 4852 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0007t0036 0/0 4853 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0007t0068 0/0 4854 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0007t0077 0/0 4852 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0008t0002 0/0 4854 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0008t0008 0/0 4854 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0009t0016 0/0 4854 2 2 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0015t0027 0/0 4855 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0017t0002 0/0 4854 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0018t0002 0/0 4854 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0019t0022 0/0 4852 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0021t0003 0/0 4854 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0001c0022t0006 0/0 4852 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0002c0002t0001 0/0 4852 12 0 0 7 2 3 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0002c0002t0002 0/0 4854 9 0 2 7 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0002c0002t0003 0/0 4854 12 0 2 8 0 2 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0002c0002t0004 0/0 4852 3 0 0 3 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0002c0002t0005 0/0 4852 6 1 1 4 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0002c0002t0006 0/1 4852 8 2 3 1 1 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0002c0002t0007 0/0 4852 3 0 0 3 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0002c0002t0008 0/0 4854 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0002c0002t0009 0/0 4854 9 0 2 7 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0002c0002t0011 0/0 4852 2 0 0 2 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0002c0002t0012 0/0 4852 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0002c0002t0013 0/0 4853 3 0 1 2 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0002c0002t0014 0/0 4853 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0002c0002t0015 0/0 4853 3 0 0 3 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0002c0002t0018 0/0 4851 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0002c0002t0019 0/0 4852 3 0 0 3 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0002c0002t0023 0/0 4853 1 0 0 0 1 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0002c0002t0025 0/0 4852 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0002c0002t0026 0/0 4853 2 0 1 0 0 1 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0002c0002t0030 0/0 4854 2 0 0 2 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0002c0002t0033 0/0 4853 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0002c0002t0038 0/0 4852 1 0 0 0 1 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0002c0002t0042 0/0 4853 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0002c0002t0045 0/0 4852 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0002c0002t0050 0/0 4853 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0002c0002t0052 0/0 4852 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0002c0002t0055 0/0 4854 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0002c0002t0057 0/0 4855 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0002c0002t0063 0/0 4854 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0002c0002t0064 0/0 4853 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0002c0002t0066 0/0 4853 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0002c0002t0067 0/0 4853 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0002c0002t0071 0/0 4852 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0002c0010t0003 0/0 4854 2 0 0 0 2 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0002c0011t0053 0/0 4852 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0002c0013t0017 0/0 4854 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0003c0004t0001 0/0 4852 6 0 3 0 2 1 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0003c0004t0002 0/0 4854 2 0 1 1 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0003c0004t0003 0/0 4854 3 1 1 0 0 1 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0003c0004t0004 0/0 4852 3 0 1 0 0 2 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0003c0004t0007 0/0 4852 2 1 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0003c0004t0011 0/0 4852 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0003c0004t0012 0/0 4852 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0003c0004t0014 0/0 4853 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0003c0004t0023 0/0 4853 2 0 2 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0003c0004t0029 0/0 4852 2 0 0 0 0 2 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0003c0004t0033 0/0 4853 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0003c0004t0049 0/0 4852 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0003c0004t0054 0/0 4853 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0003c0004t0062 0/0 4852 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0003c0004t0072 0/0 4854 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0003c0014t0015 0/0 4853 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0004c0006t0004 0/0 4852 2 0 2 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0004c0006t0016 0/0 4854 2 0 0 0 1 1 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0004c0006t0024 0/0 4853 2 0 1 0 0 1 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0005c0016t0002 0/0 4854 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0006c0020t0003 0/0 4854 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310
a0007c0012t0032 0/0 4852 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB copy fasta chr5 78772209 78990310

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0023 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0001g0024 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0001g0027 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0001g0031 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0001g0035 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0001g0062 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0001g0084 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0001g0087 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0001g0110 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0001g0134 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0001g0135 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0001g0144 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0001g0168 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0001g0169 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0001g0222 1/0 1 0 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0001g0236 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0001g0245 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0001g0263 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0001g0265 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0001g0289 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0001g0305 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0001g0315 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0001g0321 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0001g0335 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0002g0005 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0002g0039 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0002g0092 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0002g0104 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0002g0143 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0002g0145 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0002g0200 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0002g0201 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0002g0209 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0002g0218 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0002g0261 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0002g0277 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0002g0317 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0003g0019 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0003g0021 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0003g0032 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0003g0034 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0003g0063 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0003g0064 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0003g0093 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0003g0140 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0003g0159 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0003g0167 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0003g0190 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0003g0214 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0003g0256 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0003g0257 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0003g0293 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0003g0301 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0003g0307 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0003g0327 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0003g0339 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0004g0009 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0004g0020 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0004g0058 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0004g0083 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0004g0238 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0004g0278 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0004g0328 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0004g0330 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0004g0337 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0005g0038 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0005g0041 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0005g0075 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0005g0076 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0005g0077 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0005g0171 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0005g0172 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0005g0195 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0005g0208 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0005g0235 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0006g0219 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0006g0356 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0007g0115 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0007g0181 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0007g0250 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0007g0333 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0008g0030 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0008g0036 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0008g0040 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0008g0065 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0008g0113 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0008g0131 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0008g0223 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0008g0279 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0008g0286 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0008g0297 0/0 1 0 0 0 1 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0009g0226 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0010g0018 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0010g0029 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0010g0107 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0010g0141 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0010g0147 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0010g0244 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0010g0264 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0011g0026 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0011g0033 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0011g0046 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0011g0105 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0011g0242 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0013g0170 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0013g0227 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0013g0329 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0014g0189 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0014g0199 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0018g0130 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0019g0249 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0020g0028 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0020g0146 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0020g0290 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0021g0173 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0021g0174 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0021g0347 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0024g0182 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0025g0316 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0031g0324 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0034g0072 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0037g0059 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0039g0291 0/0 1 0 0 0 1 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0040g0288 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0043g0090 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0044g0091 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0047g0043 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0051g0239 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0059g0332 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0001t0065g0017 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0001g0047 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0001g0048 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0001g0049 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0001g0326 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0001g0344 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0002g0013 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0002g0074 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0002g0078 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0002g0082 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0002g0101 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0002g0160 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0002g0253 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0002g0262 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0002g0269 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0002g0270 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0002g0276 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0002g0320 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0002g0338 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0002g0342 0/0 1 0 0 0 1 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0002g0349 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0002g0351 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0002g0354 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0003g0050 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0003g0334 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0005g0060 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0006g0103 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0006g0156 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0006g0212 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0006g0254 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0006g0267 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0006g0274 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0007g0011 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0007g0012 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0007g0132 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0007g0352 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0008g0116 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0009g0281 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0010g0157 0/0 1 0 0 0 1 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0012g0089 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0012g0166 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0012g0177 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0012g0232 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0012g0350 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0014g0220 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0015g0346 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0016g0258 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0018g0057 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0018g0260 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0022g0178 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0022g0229 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0025g0341 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0027g0114 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0028g0051 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0028g0348 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0031g0119 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0034g0071 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0035g0357 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0041g0155 0/0 1 0 0 0 1 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0046g0343 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0048g0266 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0056g0022 0/0 1 0 0 0 1 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0058g0045 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0060g0210 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0061g0252 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0069g0273 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0070g0251 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0003t0073g0099 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0005t0013g0004 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0005t0017g0003 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0005t0017g0010 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0005t0017g0255 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0005t0017g0353 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0005t0032g0117 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0005t0035g0165 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0005t0036g0275 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0005t0074g0073 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0005t0075g0112 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0005t0076g0268 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0007t0004g0100 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0007t0036g0259 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0007t0068g0111 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0007t0077g0070 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0008t0002g0120 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0008t0008g0118 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0009t0016g0271 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0009t0016g0272 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0015t0027g0102 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0017t0002g0088 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0018t0002g0016 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0019t0022g0233 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0021t0003g0358 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0001c0022t0006g0359 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0001g0054 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0001g0069 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0001g0158 0/0 1 0 0 0 1 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0001g0183 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0001g0184 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0001g0185 0/0 1 0 0 0 1 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0001g0231 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0001g0287 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0001g0298 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0001g0299 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0001g0310 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0001g0345 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0002g0055 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0002g0056 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0002g0085 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0002g0125 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0002g0179 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0002g0186 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0002g0295 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0002g0312 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0002g0314 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0003g0025 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0003g0068 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0003g0129 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0003g0137 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0003g0196 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0003g0197 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0003g0225 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0003g0246 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0003g0247 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0003g0306 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0003g0319 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0003g0336 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0004g0079 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0004g0096 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0004g0097 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0005g0042 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0005g0192 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0005g0241 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0005g0318 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0005g0325 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0005g0340 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0006g0014 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0006g0126 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0006g0191 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0006g0204 0/0 1 0 0 0 1 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0006g0205 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0006g0206 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0006g0211 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0006g0294 0/1 1 0 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0007g0044 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0007g0081 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0007g0313 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0008g0311 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0009g0066 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0009g0067 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0009g0080 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0009g0121 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0009g0136 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0009g0138 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0009g0193 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0009g0194 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0009g0309 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0011g0230 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0011g0234 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0012g0228 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0013g0216 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0013g0240 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0013g0300 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0014g0106 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0015g0053 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0015g0207 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0015g0296 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0018g0308 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0019g0052 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0019g0248 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0019g0303 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0023g0162 0/0 1 0 0 0 1 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0025g0213 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0026g0086 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0026g0176 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0030g0037 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0030g0304 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0033g0217 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0038g0006 0/0 1 0 0 0 1 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0042g0224 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0045g0302 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0050g0008 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0052g0098 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0055g0094 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0057g0284 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0063g0198 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0064g0285 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0066g0355 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0067g0203 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0002t0071g0280 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0010t0003g0161 0/0 1 0 0 0 1 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0010t0003g0322 0/0 1 0 0 0 1 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0011t0053g0002 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0002c0013t0017g0015 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0003c0004t0001g0001 0/0 2 0 2 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0003c0004t0001g0124 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0003c0004t0001g0153 0/0 1 0 0 0 1 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0003c0004t0001g0154 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0003c0004t0001g0187 0/0 1 0 0 0 1 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0003c0004t0002g0128 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0003c0004t0002g0243 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0003c0004t0003g0095 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0003c0004t0003g0283 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0003c0004t0003g0292 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0003c0004t0004g0122 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0003c0004t0004g0149 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0003c0004t0004g0150 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0003c0004t0007g0152 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0003c0004t0007g0331 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0003c0004t0011g0007 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0003c0004t0012g0123 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0003c0004t0014g0164 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0003c0004t0023g0148 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0003c0004t0023g0151 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0003c0004t0029g0108 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0003c0004t0029g0109 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0003c0004t0033g0282 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0003c0004t0049g0139 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0003c0004t0054g0142 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0003c0004t0062g0133 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0003c0004t0072g0323 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0003c0014t0015g0202 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0004c0006t0004g0188 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0004c0006t0004g0215 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0004c0006t0016g0163 0/0 1 0 0 0 1 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0004c0006t0016g0221 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0004c0006t0024g0061 0/0 1 0 0 0 0 1 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0004c0006t0024g0175 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0005c0016t0002g0237 0/0 1 1 0 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0006c0020t0003g0127 0/0 1 0 0 1 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
a0007c0012t0032g0180 0/0 1 0 1 0 0 0 ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00099 hp1 a0002 c0002 t0001 g0158 EUR GBR ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG00099 hp2 a0003 c0004 t0001 g0187 EUR GBR ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG00140 hp1 a0001 c0001 t0039 g0291 EUR GBR ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG00140 hp2 a0002 c0002 t0001 g0185 EUR GBR ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG00280 hp1 a0001 c0001 t0008 g0297 EUR FIN ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG00280 hp2 a0003 c0004 t0001 g0153 EUR FIN ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG00323 hp1 a0004 c0006 t0016 g0163 EUR FIN ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG00323 hp2 a0001 c0003 t0041 g0155 EUR FIN ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG00408 hp1 a0002 c0002 t0050 g0008 EAS CHS ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG00408 hp2 a0001 c0001 t0005 g0172 EAS CHS ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG00423 hp1 a0001 c0001 t0002 g0039 EAS CHS ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG00423 hp2 a0002 c0002 t0042 g0224 EAS CHS ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG00438 hp1 a0002 c0002 t0005 g0325 EAS CHS ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG00438 hp2 a0001 c0001 t0005 g0171 EAS CHS ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG00544 hp1 a0002 c0002 t0002 g0179 EAS CHS ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG00544 hp2 a0001 c0003 t0060 g0210 EAS CHS ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG00558 hp1 a0001 c0001 t0005 g0235 EAS CHS ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG00558 hp2 a0002 c0002 t0007 g0081 EAS CHS ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG00609 hp1 a0001 c0001 t0003 g0167 EAS CHS ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG00609 hp2 a0002 c0002 t0001 g0054 EAS CHS ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG00621 hp1 a0002 c0002 t0005 g0318 EAS CHS ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG00621 hp2 a0001 c0001 t0003 g0327 EAS CHS ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG00642 hp1 a0003 c0004 t0054 g0142 AMR PUR ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG00642 hp2 a0002 c0002 t0002 g0186 AMR PUR ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG00673 hp1 a0002 c0002 t0019 g0248 EAS CHS ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG00673 hp2 a0003 c0004 t0002 g0243 EAS CHS ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG00733 hp1 a0001 c0003 t0002 g0351 AMR PUR ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG00733 hp2 a0002 c0002 t0006 g0205 AMR PUR ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG00738 hp1 a0001 c0001 t0005 g0075 AMR PUR ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG00738 hp2 a0003 c0004 t0023 g0151 AMR PUR ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG00741 hp1 a0001 c0001 t0043 g0090 AMR PUR ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG00741 hp2 a0002 c0002 t0066 g0355 AMR PUR ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01069 hp1 a0001 c0003 t0046 g0343 AMR PUR ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01069 hp2 a0001 c0001 t0005 g0076 AMR PUR ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01070 hp1 a0003 c0004 t0023 g0148 AMR PUR ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01070 hp2 a0002 c0002 t0003 g0197 AMR PUR ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01071 hp1 a0002 c0002 t0003 g0196 AMR PUR ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01071 hp2 a0001 c0001 t0005 g0077 AMR PUR ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01074 hp1 a0007 c0012 t0032 g0180 AMR PUR ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01074 hp2 a0001 c0001 t0014 g0199 AMR PUR ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01106 hp1 a0002 c0002 t0067 g0203 AMR PUR ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01106 hp2 a0001 c0001 t0001 g0087 AMR PUR ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01109 hp1 a0002 c0002 t0063 g0198 AMR PUR ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01109 hp2 a0001 c0003 t0012 g0166 AMR PUR ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01167 hp1 a0001 c0007 t0077 g0070 AMR PUR ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01167 hp2 a0001 c0003 t0025 g0341 AMR PUR ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01168 hp1 a0002 c0002 t0013 g0216 AMR PUR ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01168 hp2 a0001 c0003 t0002 g0349 AMR PUR ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01175 hp1 a0001 c0001 t0037 g0059 AMR PUR ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01175 hp2 a0002 c0002 t0057 g0284 AMR PUR ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01192 hp1 a0001 c0003 t0007 g0132 AMR PUR ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01192 hp2 a0002 c0002 t0064 g0285 AMR PUR ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01243 hp1 a0001 c0001 t0007 g0250 AMR PUR ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01243 hp2 a0001 c0003 t0002 g0270 AMR PUR ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01255 hp1 a0002 c0002 t0033 g0217 AMR CLM ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01255 hp2 a0003 c0004 t0003 g0283 AMR CLM ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01257 hp1 a0002 c0002 t0005 g0042 AMR CLM ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01257 hp2 a0003 c0004 t0001 g0001 AMR CLM ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01258 hp1 a0004 c0006 t0024 g0175 AMR CLM ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01258 hp2 a0003 c0004 t0001 g0001 AMR CLM ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01261 hp1 a0001 c0001 t0003 g0064 AMR CLM ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01261 hp2 a0001 c0001 t0001 g0265 AMR CLM ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01346 hp1 a0001 c0001 t0005 g0195 AMR CLM ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01346 hp2 a0002 c0002 t0006 g0211 AMR CLM ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01358 hp1 a0004 c0006 t0004 g0188 AMR CLM ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01358 hp2 a0003 c0004 t0033 g0282 AMR CLM ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01361 hp1 a0003 c0004 t0002 g0128 AMR CLM ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01361 hp2 a0001 c0001 t0024 g0182 AMR CLM ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01433 hp1 a0001 c0001 t0008 g0065 AMR CLM ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01433 hp2 a0003 c0004 t0012 g0123 AMR CLM ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01496 hp1 a0002 c0013 t0017 g0015 AMR CLM ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01496 hp2 a0004 c0006 t0004 g0215 AMR CLM ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01515 hp1 a0002 c0010 t0003 g0322 EUR IBS ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01515 hp2 a0001 c0003 t0010 g0157 EUR IBS ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01517 hp1 a0002 c0002 t0006 g0204 EUR IBS ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01517 hp2 a0002 c0010 t0003 g0161 EUR IBS ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01884 hp1 a0001 c0005 t0017 g0353 AFR ACB ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01884 hp2 a0001 c0018 t0002 g0016 AFR ACB ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01891 hp1 a0001 c0003 t0028 g0348 AFR ACB ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01891 hp2 a0001 c0009 t0016 g0272 AFR ACB ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01943 hp1 a0001 c0001 t0010 g0107 AMR PEL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01943 hp2 a0001 c0001 t0007 g0333 AMR PEL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01952 hp1 a0001 c0001 t0001 g0024 AMR PEL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01952 hp2 a0003 c0004 t0004 g0122 AMR PEL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01975 hp1 a0001 c0001 t0010 g0147 AMR PEL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01975 hp2 a0002 c0002 t0006 g0191 AMR PEL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01978 hp1 a0001 c0001 t0001 g0135 AMR PEL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01978 hp2 a0002 c0002 t0026 g0176 AMR PEL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01981 hp1 a0001 c0003 t0002 g0160 AMR PEL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01981 hp2 a0001 c0001 t0001 g0335 AMR PEL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01993 hp1 a0001 c0001 t0008 g0113 AMR PEL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG01993 hp2 a0003 c0004 t0014 g0164 AMR PEL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02004 hp1 a0002 c0002 t0009 g0193 AMR PEL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02004 hp2 a0002 c0002 t0002 g0125 AMR PEL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02027 hp1 a0002 c0002 t0025 g0213 EAS KHV ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02027 hp2 a0001 c0001 t0001 g0084 EAS KHV ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02040 hp1 a0002 c0002 t0002 g0314 EAS KHV ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02040 hp2 a0001 c0003 t0009 g0281 EAS KHV ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02055 hp1 a0001 c0005 t0017 g0010 AFR ACB ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02055 hp2 a0001 c0015 t0027 g0102 AFR ACB ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02056 hp1 a0001 c0001 t0008 g0286 EAS KHV ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02056 hp2 a0001 c0003 t0014 g0220 EAS KHV ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02071 hp1 a0001 c0003 t0002 g0320 EAS KHV ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02071 hp2 a0001 c0001 t0004 g0330 EAS KHV ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02074 hp1 a0001 c0001 t0059 g0332 EAS KHV ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02074 hp2 a0002 c0002 t0001 g0310 EAS KHV ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02080 hp1 a0002 c0002 t0004 g0079 EAS KHV ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02080 hp2 a0001 c0001 t0001 g0023 EAS KHV ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02129 hp1 a0002 c0002 t0003 g0025 EAS KHV ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02129 hp2 a0001 c0001 t0003 g0140 EAS KHV ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02132 hp1 a0001 c0001 t0002 g0209 EAS KHV ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02132 hp2 a0002 c0002 t0011 g0230 EAS KHV ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02135 hp1 a0001 c0001 t0003 g0339 EAS KHV ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02135 hp2 a0001 c0001 t0001 g0305 EAS KHV ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02145 hp1 a0001 c0003 t0006 g0267 AFR ACB ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02145 hp2 a0003 c0004 t0072 g0323 AFR ACB ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02155 hp1 a0001 c0001 t0005 g0208 EAS CDX ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02155 hp2 a0001 c0003 t0002 g0338 EAS CDX ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02258 hp1 a0001 c0003 t0002 g0354 AFR ACB ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02258 hp2 a0001 c0003 t0012 g0089 AFR ACB ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02280 hp1 a0003 c0004 t0003 g0292 AFR ACB ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02280 hp2 a0001 c0001 t0008 g0279 AFR ACB ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02293 hp1 a0003 c0004 t0001 g0124 AMR PEL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02293 hp2 a0002 c0002 t0009 g0194 AMR PEL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02451 hp1 a0001 c0005 t0076 g0268 AFR ACB ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02451 hp2 a0001 c0003 t0002 g0262 AFR ACB ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02523 hp1 a0001 c0001 t0005 g0038 EAS KHV ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02523 hp2 a0001 c0001 t0004 g0083 EAS KHV ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02572 hp1 a0001 c0003 t0006 g0156 AFR GWD ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02572 hp2 a0001 c0003 t0027 g0114 AFR GWD ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02602 hp1 a0003 c0004 t0001 g0154 SAS PJL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02602 hp2 a0004 c0006 t0024 g0061 SAS PJL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02615 hp1 a0001 c0008 t0008 g0118 AFR GWD ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02615 hp2 a0001 c0003 t0073 g0099 AFR GWD ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02622 hp1 a0001 c0005 t0017 g0255 AFR GWD ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02622 hp2 a0001 c0001 t0004 g0278 AFR GWD ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02647 hp1 a0001 c0003 t0012 g0350 AFR GWD ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02647 hp2 a0001 c0003 t0002 g0253 AFR GWD ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02683 hp1 a0003 c0004 t0062 g0133 SAS PJL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02683 hp2 a0002 c0002 t0001 g0345 SAS PJL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02698 hp1 a0002 c0002 t0001 g0184 SAS PJL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02698 hp2 a0001 c0001 t0003 g0214 SAS PJL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02717 hp1 a0001 c0001 t0002 g0261 AFR GWD ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02717 hp2 a0001 c0008 t0002 g0120 AFR GWD ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02723 hp1 a0001 c0003 t0035 g0357 AFR GWD ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02723 hp2 a0001 c0003 t0002 g0078 AFR GWD ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02735 hp1 a0004 c0006 t0016 g0221 SAS PJL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02735 hp2 a0003 c0014 t0015 g0202 SAS PJL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02738 hp1 a0001 c0021 t0003 g0358 SAS PJL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02738 hp2 a0001 c0001 t0001 g0289 SAS PJL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02809 hp1 a0001 c0001 t0007 g0115 AFR GWD ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02809 hp2 a0005 c0016 t0002 g0237 AFR GWD ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02818 hp1 a0001 c0001 t0034 g0072 AFR GWD ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02818 hp2 a0001 c0003 t0018 g0260 AFR GWD ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02886 hp1 a0001 c0017 t0002 g0088 AFR GWD ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02886 hp2 a0003 c0004 t0007 g0152 AFR GWD ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02895 hp1 a0001 c0003 t0061 g0252 AFR GWD ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02895 hp2 a0001 c0003 t0069 g0273 AFR GWD ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02896 hp1 a0002 c0002 t0006 g0014 AFR GWD ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02896 hp2 a0001 c0003 t0007 g0012 AFR GWD ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02897 hp1 a0001 c0003 t0006 g0274 AFR GWD ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02897 hp2 a0001 c0003 t0007 g0011 AFR GWD ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02922 hp1 a0001 c0007 t0036 g0259 AFR ESN ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02922 hp2 a0001 c0003 t0006 g0103 AFR ESN ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02965 hp1 a0001 c0005 t0032 g0117 AFR ESN ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02965 hp2 a0001 c0003 t0070 g0251 AFR ESN ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02976 hp1 a0001 c0005 t0075 g0112 AFR ESN ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02976 hp2 a0001 c0007 t0068 g0111 AFR ESN ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03017 hp1 a0001 c0001 t0004 g0328 SAS PJL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03017 hp2 a0003 c0004 t0003 g0095 SAS PJL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03041 hp1 a0001 c0003 t0002 g0269 AFR GWD ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03041 hp2 a0001 c0001 t0018 g0130 AFR GWD ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03098 hp1 a0001 c0001 t0004 g0058 AFR MSL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03098 hp2 a0001 c0001 t0006 g0219 AFR MSL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03130 hp1 a0001 c0019 t0022 g0233 AFR ESN ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03130 hp2 a0001 c0001 t0031 g0324 AFR ESN ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03139 hp1 a0001 c0003 t0034 g0071 AFR ESN ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03139 hp2 a0001 c0001 t0002 g0092 AFR ESN ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03195 hp1 a0001 c0003 t0016 g0258 AFR ESN ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03195 hp2 a0001 c0003 t0002 g0013 AFR ESN ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03209 hp1 a0001 c0003 t0008 g0116 AFR MSL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03209 hp2 a0001 c0001 t0004 g0009 AFR MSL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03225 hp1 a0002 c0002 t0052 g0098 AFR MSL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03225 hp2 a0001 c0003 t0012 g0177 AFR MSL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03453 hp1 a0001 c0003 t0007 g0352 AFR MSL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03453 hp2 a0001 c0001 t0002 g0277 AFR MSL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03486 hp1 a0001 c0003 t0031 g0119 AFR MSL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03486 hp2 a0001 c0003 t0048 g0266 AFR MSL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03490 hp1 a0001 c0003 t0001 g0326 SAS PJL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03490 hp2 a0003 c0004 t0029 g0108 SAS PJL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03491 hp1 a0001 c0003 t0015 g0346 SAS PJL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03491 hp2 a0001 c0001 t0010 g0264 SAS PJL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03492 hp1 a0003 c0004 t0029 g0109 SAS PJL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03492 hp2 a0001 c0001 t0001 g0263 SAS PJL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03516 hp1 a0001 c0003 t0002 g0101 AFR ESN ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03516 hp2 a0001 c0001 t0006 g0356 AFR ESN ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03540 hp1 a0001 c0005 t0036 g0275 AFR GWD ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03540 hp2 a0001 c0007 t0004 g0100 AFR GWD ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03579 hp1 a0001 c0005 t0074 g0073 AFR MSL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03579 hp2 a0001 c0001 t0002 g0218 AFR MSL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03654 hp1 a0001 c0001 t0040 g0288 SAS PJL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03654 hp2 a0001 c0001 t0010 g0244 SAS PJL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03669 hp1 a0003 c0004 t0004 g0149 SAS PJL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03669 hp2 a0002 c0002 t0055 g0094 SAS PJL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03710 hp1 a0002 c0002 t0001 g0183 SAS PJL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03710 hp2 a0003 c0004 t0004 g0150 SAS PJL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03834 hp1 a0002 c0002 t0026 g0086 SAS BEB ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03834 hp2 a0001 c0001 t0004 g0337 SAS BEB ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03927 hp1 a0001 c0003 t0058 g0045 SAS BEB ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03927 hp2 a0003 c0004 t0007 g0331 SAS BEB ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03942 hp1 a0001 c0001 t0007 g0181 SAS BEB ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03942 hp2 a0002 c0002 t0003 g0129 SAS BEB ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG04115 hp1 a0001 c0003 t0006 g0212 SAS STU ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG04115 hp2 a0001 c0001 t0047 g0043 SAS STU ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG04184 hp1 a0002 c0011 t0053 g0002 SAS BEB ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG04184 hp2 a0001 c0001 t0003 g0063 SAS BEB ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG04199 hp1 a0001 c0001 t0014 g0189 SAS STU ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG04199 hp2 a0001 c0001 t0003 g0093 SAS STU ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG04204 hp1 a0002 c0002 t0003 g0336 SAS STU ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG04204 hp2 a0001 c0003 t0001 g0344 SAS STU ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18612 hp1 a0002 c0002 t0011 g0234 EAS CHB ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18612 hp2 a0002 c0002 t0002 g0312 EAS CHB ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18747 hp1 a0002 c0002 t0007 g0044 EAS CHB ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18747 hp2 a0001 c0001 t0005 g0041 EAS CHB ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18906 hp1 a0001 c0003 t0028 g0051 AFR YRI ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18906 hp2 a0001 c0005 t0017 g0003 AFR YRI ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18941 hp1 a0001 c0001 t0010 g0018 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18941 hp2 a0002 c0002 t0003 g0306 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18942 hp1 a0001 c0001 t0008 g0040 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18942 hp2 a0001 c0001 t0001 g0144 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18943 hp1 a0002 c0002 t0019 g0052 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18943 hp2 a0001 c0001 t0021 g0173 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18944 hp1 a0002 c0002 t0009 g0067 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18944 hp2 a0001 c0001 t0001 g0236 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18946 hp1 a0002 c0002 t0045 g0302 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18946 hp2 a0001 c0001 t0002 g0143 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18947 hp1 a0001 c0003 t0001 g0048 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18947 hp2 a0001 c0001 t0011 g0046 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18948 hp1 a0002 c0002 t0003 g0319 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18948 hp2 a0001 c0001 t0003 g0301 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18949 hp1 a0002 c0002 t0001 g0299 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18949 hp2 a0002 c0002 t0019 g0303 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18950 hp1 a0006 c0020 t0003 g0127 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18950 hp2 a0001 c0001 t0001 g0315 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18951 hp1 a0002 c0002 t0015 g0207 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18951 hp2 a0002 c0002 t0004 g0097 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18952 hp1 a0001 c0001 t0008 g0131 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18952 hp2 a0001 c0001 t0001 g0169 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18953 hp1 a0001 c0001 t0004 g0238 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18953 hp2 a0001 c0001 t0013 g0329 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18954 hp1 a0002 c0002 t0013 g0300 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18954 hp2 a0001 c0001 t0011 g0033 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18957 hp1 a0001 c0001 t0001 g0035 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18957 hp2 a0001 c0001 t0003 g0034 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18959 hp1 a0001 c0001 t0013 g0170 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18959 hp2 a0001 c0001 t0025 g0316 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18960 hp1 a0003 c0004 t0011 g0007 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18960 hp2 a0001 c0001 t0001 g0245 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18961 hp1 a0001 c0001 t0020 g0146 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18961 hp2 a0002 c0002 t0018 g0308 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18962 hp1 a0001 c0003 t0001 g0049 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18962 hp2 a0001 c0001 t0008 g0036 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18963 hp1 a0001 c0001 t0021 g0347 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18963 hp2 a0002 c0002 t0002 g0085 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18968 hp1 a0002 c0002 t0015 g0296 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18968 hp2 a0001 c0001 t0003 g0257 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18969 hp1 a0002 c0002 t0005 g0340 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18969 hp2 a0001 c0001 t0051 g0239 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18970 hp1 a0002 c0002 t0001 g0069 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18970 hp2 a0001 c0001 t0003 g0032 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18972 hp1 a0001 c0001 t0003 g0021 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18972 hp2 a0001 c0001 t0003 g0293 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18975 hp1 a0002 c0002 t0001 g0287 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18975 hp2 a0001 c0001 t0009 g0226 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18978 hp1 a0002 c0002 t0014 g0106 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18978 hp2 a0001 c0001 t0021 g0174 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18979 hp1 a0002 c0002 t0009 g0138 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18979 hp2 a0001 c0001 t0002 g0317 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18983 hp1 a0001 c0001 t0001 g0031 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18983 hp2 a0001 c0001 t0011 g0105 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18984 hp1 a0001 c0001 t0001 g0134 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18984 hp2 a0002 c0002 t0002 g0056 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18985 hp1 a0002 c0002 t0001 g0298 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18985 hp2 a0001 c0001 t0013 g0227 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18986 hp1 a0002 c0002 t0006 g0206 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18986 hp2 a0002 c0002 t0008 g0311 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18988 hp1 a0001 c0003 t0005 g0060 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18988 hp2 a0001 c0001 t0011 g0242 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18989 hp1 a0001 c0001 t0002 g0201 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18989 hp2 a0002 c0002 t0013 g0240 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18992 hp1 a0002 c0002 t0001 g0231 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18992 hp2 a0001 c0001 t0001 g0027 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18993 hp1 a0001 c0001 t0011 g0026 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18993 hp2 a0002 c0002 t0002 g0055 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18994 hp1 a0001 c0001 t0003 g0256 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18994 hp2 a0002 c0002 t0002 g0295 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18995 hp1 a0001 c0001 t0002 g0145 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA18995 hp2 a0002 c0002 t0015 g0053 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19000 hp1 a0002 c0002 t0003 g0247 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19000 hp2 a0001 c0003 t0003 g0050 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19001 hp1 a0002 c0002 t0004 g0096 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19001 hp2 a0001 c0001 t0003 g0307 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19002 hp1 a0002 c0002 t0007 g0313 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19002 hp2 a0002 c0002 t0003 g0068 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19003 hp1 a0002 c0002 t0009 g0309 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19003 hp2 a0002 c0002 t0009 g0121 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19004 hp1 a0002 c0002 t0030 g0037 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19004 hp2 a0001 c0001 t0001 g0062 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19009 hp1 a0001 c0001 t0020 g0028 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19009 hp2 a0001 c0001 t0008 g0030 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19010 hp1 a0001 c0003 t0001 g0047 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19010 hp2 a0001 c0001 t0008 g0223 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19011 hp1 a0001 c0001 t0004 g0020 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19011 hp2 a0001 c0001 t0019 g0249 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19030 hp1 a0001 c0001 t0044 g0091 AFR LWK ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19030 hp2 a0001 c0001 t0003 g0159 AFR LWK ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19043 hp1 a0003 c0004 t0049 g0139 AFR LWK ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19043 hp2 a0001 c0022 t0006 g0359 AFR LWK ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19057 hp1 a0001 c0001 t0010 g0029 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19057 hp2 a0002 c0002 t0003 g0246 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19062 hp1 a0001 c0001 t0001 g0110 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19062 hp2 a0002 c0002 t0003 g0225 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19063 hp1 a0001 c0003 t0022 g0229 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19063 hp2 a0001 c0001 t0002 g0200 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19065 hp1 a0002 c0002 t0005 g0241 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19065 hp2 a0001 c0001 t0003 g0190 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19066 hp1 a0001 c0001 t0002 g0104 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19066 hp2 a0001 c0001 t0065 g0017 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19068 hp1 a0002 c0002 t0012 g0228 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19068 hp2 a0002 c0002 t0030 g0304 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19074 hp1 a0001 c0001 t0001 g0321 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19074 hp2 a0002 c0002 t0009 g0080 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19077 hp1 a0001 c0001 t0001 g0168 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19077 hp2 a0001 c0001 t0020 g0290 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19084 hp1 a0002 c0002 t0003 g0137 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19084 hp2 a0002 c0002 t0009 g0066 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19085 hp1 a0001 c0003 t0003 g0334 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19085 hp2 a0002 c0002 t0009 g0136 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19088 hp1 a0001 c0001 t0010 g0141 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19088 hp2 a0001 c0001 t0003 g0019 EAS JPT ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19240 hp1 a0001 c0009 t0016 g0271 AFR YRI ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA19240 hp2 a0001 c0005 t0013 g0004 AFR YRI ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA20129 hp1 a0002 c0002 t0006 g0126 AFR ASW ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA20129 hp2 a0001 c0003 t0018 g0057 AFR ASW ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA20752 hp1 a0002 c0002 t0038 g0006 EUR TSI ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA20752 hp2 a0001 c0003 t0002 g0342 EUR TSI ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA20805 hp1 a0002 c0002 t0023 g0162 EUR TSI ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA20805 hp2 a0001 c0003 t0056 g0022 EUR TSI ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02109 hp1 a0001 c0003 t0002 g0082 AFR ACB ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02109 hp2 a0002 c0002 t0071 g0280 AFR ACB ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02559 hp1 a0001 c0003 t0002 g0276 AFR ACB ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG02559 hp2 a0001 c0005 t0035 g0165 AFR ACB ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03471 hp1 a0001 c0003 t0002 g0074 AFR MSL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
HG03471 hp2 a0001 c0003 t0022 g0178 AFR MSL ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA20300 hp1 a0001 c0003 t0012 g0232 AFR USA ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA20300 hp2 a0002 c0002 t0005 g0192 AFR USA ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA21309 hp1 a0001 c0001 t0002 g0005 AFR LWK ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
NA21309 hp2 a0001 c0003 t0006 g0254 AFR LWK ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
homoSapiens_chm13v2 hp1 a0002 c0002 t0006 g0294 REF REF ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310
homoSapiens_grch38 hp1 a0001 c0001 t0001 g0222 REF REF ARSB_chr5_78772209_78990310 ARSB chr5 78772209 78990310

chr:pos ref alt #
# of ahapid:amino-acid(protein) level
 ahapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid transcript_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chr5:78839371 C
C
 A
A
 1 a0005
a0005
 1 HG02809.hp2
HG02809.hp2
 missense_variant MODERATE c.1198G>T
c.1198G>T
 p.Val400Leu
p.Val400Leu
 ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/8 1260/4852 1198/1602 400/533 chr5 78839371
chr5:78839418 C
C
 T
T
 1 a0004
a0004
 6 HG00323.hp1
HG01258.hp1
HG01358.hp1
others(3): Show 
HG00323.hp1
HG01258.hp1
HG01358.hp1
HG01496.hp2
HG02602.hp2
HG02735.hp1
 missense_variant MODERATE c.1151G>A
c.1151G>A
 p.Ser384Asn
p.Ser384Asn
 ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/8 1213/4852 1151/1602 384/533 chr5 78839418
chr5:78885600 C
C
 T
T
 1 a0003
a0003
 29 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(26): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01952.hp2
HG01993.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02735.hp2
HG02886.hp2
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 missense_variant MODERATE c.1126G>A
c.1126G>A
 p.Val376Met
p.Val376Met
 ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/8 1188/4852 1126/1602 376/533 chr5 78885600
chr5:78885654 C
C
 T
T
 1 a0002
a0002
 100 HG00099.hp1
HG00140.hp2
HG00408.hp1
others(97): Show 
HG00099.hp1
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02683.hp2
HG02698.hp1
HG02896.hp1
HG03225.hp1
HG03669.hp2
HG03710.hp1
HG03834.hp1
HG03942.hp2
HG04184.hp1
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18961.hp2
NA18963.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18978.hp1
NA18979.hp1
NA18984.hp2
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18992.hp1
NA18993.hp2
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA20129.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.1072G>A
c.1072G>A
 p.Val358Met
p.Val358Met
 ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/8 1134/4852 1072/1602 358/533 chr5 78885654
chr5:78964448 T
T
 C
C
 1 a0006
a0006
 1 NA18950.hp1
NA18950.hp1
 missense_variant MODERATE c.658A>G
c.658A>G
 p.Ile220Val
p.Ile220Val
 ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/8 720/4852 658/1602 220/533 chr5 78964448
chr5:78969099 C
C
 T
T
 1 a0007
a0007
 1 HG01074.hp1
HG01074.hp1
 missense_variant MODERATE c.406G>A
c.406G>A
 p.Ala136Thr
p.Ala136Thr
 ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/8 468/4852 406/1602 136/533 chr5 78969099

chr:pos ref alt #
# of chapid
 chapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid transcript_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chr5:78780466 G
G
 A
A
 1 a0001c0015
a0001c0015
 1 HG02055.hp2
HG02055.hp2
 synonymous_variant LOW c.1533C>T
c.1533C>T
 p.Pro511Pro
p.Pro511Pro
 ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 8/8 1595/4852 1533/1602 511/533 chr5 78780466
chr5:78780553 T
T
 C
C
 3 a0001c0008
a0001c0017
a0001c0019
a0001c0008
a0001c0017
a0001c0019
 4 HG02615.hp1
HG02717.hp2
HG02886.hp1
others(1): Show 
HG02615.hp1
HG02717.hp2
HG02886.hp1
HG03130.hp1
 synonymous_variant LOW c.1446A>G
c.1446A>G
 p.Glu482Glu
p.Glu482Glu
 ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 8/8 1508/4852 1446/1602 482/533 chr5 78780553
chr5:78780637 C
C
 T
T
 5 a0001c0005
a0001c0007
a0001c0009
others(2): Show 
a0001c0005
a0001c0007
a0001c0009
a0001c0022
a0002c0013
 19 HG01167.hp1
HG01496.hp1
HG01884.hp1
others(16): Show 
HG01167.hp1
HG01496.hp1
HG01884.hp1
HG01891.hp2
HG02055.hp1
HG02451.hp1
HG02559.hp2
HG02622.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp2
NA19240.hp1
NA19240.hp2
 synonymous_variant LOW c.1362G>A
c.1362G>A
 p.Pro454Pro
p.Pro454Pro
 ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 8/8 1424/4852 1362/1602 454/533 chr5 78780637
chr5:78781862 C
C
 T
T
 1 a0002c0011
a0002c0011
 1 HG04184.hp1
HG04184.hp1
 synonymous_variant LOW c.1326G>A
c.1326G>A
 p.Thr442Thr
p.Thr442Thr
 ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 7/8 1388/4852 1326/1602 442/533 chr5 78781862
chr5:78839378 C
C
 T
T
 9 a0001c0003
a0001c0005
a0001c0008
others(6): Show 
a0001c0003
a0001c0005
a0001c0008
a0001c0015
a0001c0021
a0001c0022
a0003c0014
a0005c0016
a0007c0012
 86 HG00323.hp2
HG00544.hp2
HG00733.hp1
others(83): Show 
HG00323.hp2
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01981.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02145.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03927.hp1
HG04115.hp1
HG04204.hp2
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19043.hp2
NA19063.hp1
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
 synonymous_variant LOW c.1191G>A
c.1191G>A
 p.Pro397Pro
p.Pro397Pro
 ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/8 1253/4852 1191/1602 397/533 chr5 78839378
chr5:78885658 T
T
 A
A
 3 a0001c0009
a0001c0018
a0001c0019
a0001c0009
a0001c0018
a0001c0019
 4 HG01884.hp2
HG01891.hp2
HG03130.hp1
others(1): Show 
HG01884.hp2
HG01891.hp2
HG03130.hp1
NA19240.hp1
 synonymous_variant LOW c.1068A>T
c.1068A>T
 p.Thr356Thr
p.Thr356Thr
 ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/8 1130/4852 1068/1602 356/533 chr5 78885658
chr5:78885754 T
T
 C
C
 1 a0002c0010
a0002c0010
 2 HG01515.hp1
HG01517.hp2
HG01515.hp1
HG01517.hp2
 synonymous_variant LOW c.972A>G
c.972A>G
 p.Gly324Gly
p.Gly324Gly
 ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/8 1034/4852 972/1602 324/533 chr5 78885754
chr5:78985045 G
G
 T
T
 1 a0002c0011
a0002c0011
 1 HG04184.hp1
HG04184.hp1
 synonymous_variant LOW c.204C>A
c.204C>A
 p.Arg68Arg
p.Arg68Arg
 ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/8 266/4852 204/1602 68/533 chr5 78985045
chr5:78985161 G
G
 A
A
 1 a0001c0021
a0001c0021
 1 HG02738.hp1
HG02738.hp1
 synonymous_variant LOW c.88C>T
c.88C>T
 p.Leu30Leu
p.Leu30Leu
 ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/8 150/4852 88/1602 30/533 chr5 78985161
chr5:78985167 G
G
 A
A
 1 a0001c0022
a0001c0022
 1 NA19043.hp2
NA19043.hp2
 synonymous_variant LOW c.82C>T
c.82C>T
 p.Leu28Leu
p.Leu28Leu
 ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/8 144/4852 82/1602 28/533 chr5 78985167

chr:pos ref alt #
# of thapid:transcript level
 thapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid transcript_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chr5:78777216 A
A
 C
C
 14 a0001c0001t0024
a0001c0003t0015
a0001c0003t0046
others(11): Show 
a0001c0001t0024
a0001c0003t0015
a0001c0003t0046
a0002c0002t0015
a0002c0002t0023
a0002c0002t0026
a0002c0002t0033
a0002c0011t0053
a0003c0004t0023
a0003c0004t0033
a0003c0004t0054
a0003c0004t0062
a0003c0014t0015
a0004c0006t0024
 19 HG00642.hp1
HG00738.hp2
HG01069.hp1
others(16): Show 
HG00642.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp1
HG01255.hp1
HG01258.hp1
HG01358.hp2
HG01361.hp2
HG01978.hp2
HG02602.hp2
HG02683.hp1
HG02735.hp2
HG03491.hp1
HG03834.hp1
HG04184.hp1
NA18951.hp1
NA18968.hp1
NA18995.hp2
NA20805.hp1
 3_prime_UTR_variant MODIFIER c.*3181T>G
c.*3181T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 8/8 3181 chr5 78777216
chr5:78777422 C
C
 A
A
 109 a0001c0001t0002
a0001c0001t0003
a0001c0001t0004
others(106): Show 
a0001c0001t0002
a0001c0001t0003
a0001c0001t0004
a0001c0001t0006
a0001c0001t0007
a0001c0001t0008
a0001c0001t0009
a0001c0001t0013
a0001c0001t0014
a0001c0001t0018
a0001c0001t0021
a0001c0001t0024
a0001c0001t0031
a0001c0001t0034
a0001c0001t0037
a0001c0001t0039
a0001c0001t0040
a0001c0001t0043
a0001c0001t0044
a0001c0001t0051
a0001c0003t0002
a0001c0003t0003
a0001c0003t0006
a0001c0003t0007
a0001c0003t0008
a0001c0003t0009
a0001c0003t0012
a0001c0003t0014
a0001c0003t0015
a0001c0003t0016
a0001c0003t0018
a0001c0003t0022
a0001c0003t0027
a0001c0003t0028
a0001c0003t0031
a0001c0003t0034
a0001c0003t0035
a0001c0003t0041
a0001c0003t0046
a0001c0003t0048
a0001c0003t0056
a0001c0003t0060
a0001c0003t0061
a0001c0003t0069
a0001c0003t0070
a0001c0003t0073
a0001c0005t0013
a0001c0005t0017
a0001c0005t0032
a0001c0005t0035
a0001c0005t0074
a0001c0005t0075
a0001c0005t0076
a0001c0007t0004
a0001c0007t0068
a0001c0008t0002
a0001c0008t0008
a0001c0009t0016
a0001c0015t0027
a0001c0017t0002
a0001c0018t0002
a0001c0019t0022
a0001c0021t0003
a0001c0022t0006
a0002c0002t0002
a0002c0002t0003
a0002c0002t0004
a0002c0002t0006
a0002c0002t0007
a0002c0002t0008
a0002c0002t0009
a0002c0002t0012
a0002c0002t0013
a0002c0002t0014
a0002c0002t0015
a0002c0002t0018
a0002c0002t0023
a0002c0002t0026
a0002c0002t0030
a0002c0002t0033
a0002c0002t0038
a0002c0002t0045
a0002c0002t0050
a0002c0002t0052
a0002c0002t0057
a0002c0002t0063
a0002c0002t0067
a0002c0010t0003
a0002c0011t0053
a0002c0013t0017
a0003c0004t0002
a0003c0004t0003
a0003c0004t0004
a0003c0004t0007
a0003c0004t0012
a0003c0004t0014
a0003c0004t0023
a0003c0004t0033
a0003c0004t0049
a0003c0004t0054
a0003c0004t0062
a0003c0004t0072
a0003c0014t0015
a0004c0006t0004
a0004c0006t0016
a0004c0006t0024
a0005c0016t0002
a0006c0020t0003
a0007c0012t0032
 256 HG00140.hp1
HG00280.hp1
HG00323.hp1
others(253): Show 
HG00140.hp1
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp2
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp2
NA18944.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18957.hp2
NA18959.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*2975G>T
c.*2975G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 8/8 2975 chr5 78777422
chr5:78777538 A
A
 G
G
 5 a0001c0003t0028
a0001c0003t0048
a0001c0003t0061
others(2): Show 
a0001c0003t0028
a0001c0003t0048
a0001c0003t0061
a0001c0003t0073
a0002c0002t0052
 6 HG01891.hp1
HG02615.hp2
HG02895.hp1
others(3): Show 
HG01891.hp1
HG02615.hp2
HG02895.hp1
HG03225.hp1
HG03486.hp2
NA18906.hp1
 3_prime_UTR_variant MODIFIER c.*2859T>C
c.*2859T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 8/8 2859 chr5 78777538
chr5:78777557 A
A
 C
C
 1 a0001c0003t0070
a0001c0003t0070
 1 HG02965.hp2
HG02965.hp2
 3_prime_UTR_variant MODIFIER c.*2840T>G
c.*2840T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 8/8 2840 chr5 78777557
chr5:78777574 C
C
 T
T
 2 a0001c0001t0043
a0001c0001t0044
a0001c0001t0043
a0001c0001t0044
 2 HG00741.hp1
NA19030.hp1
HG00741.hp1
NA19030.hp1
 3_prime_UTR_variant MODIFIER c.*2823G>A
c.*2823G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 8/8 2823 chr5 78777574
chr5:78777689 C
C
 T
T
 2 a0001c0003t0035
a0001c0005t0035
a0001c0003t0035
a0001c0005t0035
 2 HG02559.hp2
HG02723.hp1
HG02559.hp2
HG02723.hp1
 3_prime_UTR_variant MODIFIER c.*2708G>A
c.*2708G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 8/8 2708 chr5 78777689
chr5:78777690 G
G
 A
A
 1 a0001c0003t0056
a0001c0003t0056
 1 NA20805.hp2
NA20805.hp2
 3_prime_UTR_variant MODIFIER c.*2707C>T
c.*2707C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 8/8 2707 chr5 78777690
chr5:78777743 T
T
 C
C
 4 a0001c0003t0028
a0001c0003t0048
a0001c0003t0061
others(1): Show 
a0001c0003t0028
a0001c0003t0048
a0001c0003t0061
a0001c0003t0073
 5 HG01891.hp1
HG02615.hp2
HG02895.hp1
others(2): Show 
HG01891.hp1
HG02615.hp2
HG02895.hp1
HG03486.hp2
NA18906.hp1
 3_prime_UTR_variant MODIFIER c.*2654A>G
c.*2654A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 8/8 2654 chr5 78777743
chr5:78777851 C
C
 CA
CA
 33 a0001c0001t0013
a0001c0001t0014
a0001c0001t0024
others(30): Show 
a0001c0001t0013
a0001c0001t0014
a0001c0001t0024
a0001c0001t0031
a0001c0001t0034
a0001c0001t0039
a0001c0001t0047
a0001c0003t0014
a0001c0003t0015
a0001c0003t0031
a0001c0003t0034
a0001c0005t0013
a0001c0005t0036
a0001c0005t0074
a0001c0005t0076
a0001c0007t0036
a0002c0002t0013
a0002c0002t0014
a0002c0002t0015
a0002c0002t0023
a0002c0002t0026
a0002c0002t0033
a0002c0002t0042
a0002c0002t0050
a0002c0002t0064
a0002c0002t0066
a0002c0002t0067
a0003c0004t0014
a0003c0004t0023
a0003c0004t0033
a0003c0004t0054
a0003c0014t0015
a0004c0006t0024
 43 HG00140.hp1
HG00408.hp1
HG00423.hp2
others(40): Show 
HG00140.hp1
HG00408.hp1
HG00423.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp2
HG01070.hp1
HG01074.hp2
HG01106.hp1
HG01168.hp1
HG01192.hp2
HG01255.hp1
HG01258.hp1
HG01358.hp2
HG01361.hp2
HG01978.hp2
HG01993.hp2
HG02056.hp2
HG02451.hp1
HG02602.hp2
HG02735.hp2
HG02818.hp1
HG02922.hp1
HG03130.hp2
HG03139.hp1
HG03486.hp1
HG03491.hp1
HG03540.hp1
HG03579.hp1
HG03834.hp1
HG04115.hp2
HG04199.hp1
NA18951.hp1
NA18953.hp2
NA18954.hp1
NA18959.hp1
NA18968.hp1
NA18978.hp1
NA18985.hp2
NA18989.hp2
NA18995.hp2
NA19240.hp2
NA20805.hp1
 3_prime_UTR_variant MODIFIER c.*2545dupT
c.*2545dupT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 8/8 2545 chr5 78777851
chr5:78777851 C
C
 CAA
CAA
 36 a0001c0001t0002
a0001c0001t0003
a0001c0001t0008
others(33): Show 
a0001c0001t0002
a0001c0001t0003
a0001c0001t0008
a0001c0001t0009
a0001c0001t0037
a0001c0001t0043
a0001c0003t0002
a0001c0003t0003
a0001c0003t0008
a0001c0003t0009
a0001c0003t0016
a0001c0003t0041
a0001c0003t0056
a0001c0005t0017
a0001c0007t0068
a0001c0008t0002
a0001c0008t0008
a0001c0009t0016
a0001c0017t0002
a0001c0018t0002
a0001c0021t0003
a0002c0002t0002
a0002c0002t0003
a0002c0002t0008
a0002c0002t0009
a0002c0002t0030
a0002c0002t0055
a0002c0002t0063
a0002c0010t0003
a0002c0013t0017
a0003c0004t0002
a0003c0004t0003
a0003c0004t0072
a0004c0006t0016
a0005c0016t0002
a0006c0020t0003
 129 HG00280.hp1
HG00323.hp1
HG00323.hp2
others(126): Show 
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00544.hp1
HG00609.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00741.hp1
HG01070.hp2
HG01071.hp1
HG01109.hp1
HG01168.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02615.hp1
HG02622.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03579.hp2
HG03669.hp2
HG03942.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18906.hp2
NA18941.hp2
NA18942.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18957.hp2
NA18962.hp2
NA18963.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp2
NA18989.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp2
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp2
NA19010.hp2
NA19030.hp2
NA19057.hp2
NA19062.hp2
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp2
NA19240.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*2544_*2545dupTT
c.*2544_*2545dupTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 8/8 2545 chr5 78777851
chr5:78777851 C
C
 CAAA
CAAA
 10 a0001c0001t0044
a0001c0003t0027
a0001c0003t0028
others(7): Show 
a0001c0001t0044
a0001c0003t0027
a0001c0003t0028
a0001c0003t0035
a0001c0003t0060
a0001c0003t0061
a0001c0003t0073
a0001c0005t0035
a0001c0015t0027
a0002c0002t0057
 11 HG00544.hp2
HG01175.hp2
HG01891.hp1
others(8): Show 
HG00544.hp2
HG01175.hp2
HG01891.hp1
HG02055.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02723.hp1
HG02895.hp1
NA18906.hp1
NA19030.hp1
 3_prime_UTR_variant MODIFIER c.*2543_*2545dupTTT
c.*2543_*2545dupTTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 8/8 2545 chr5 78777851
chr5:78777851 CA
CA
 C
C
 8 a0001c0001t0010
a0001c0001t0018
a0001c0001t0051
others(5): Show 
a0001c0001t0010
a0001c0001t0018
a0001c0001t0051
a0001c0001t0059
a0001c0003t0010
a0001c0003t0018
a0001c0003t0069
a0002c0002t0018
 15 HG01515.hp2
HG01943.hp1
HG01975.hp1
others(12): Show 
HG01515.hp2
HG01943.hp1
HG01975.hp1
HG02074.hp1
HG02818.hp2
HG02895.hp2
HG03041.hp2
HG03491.hp2
HG03654.hp2
NA18941.hp1
NA18961.hp2
NA18969.hp2
NA19057.hp1
NA19088.hp1
NA20129.hp2
 3_prime_UTR_variant MODIFIER c.*2545delT
c.*2545delT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 8/8 2545 chr5 78777851
chr5:78777872 T
T
 A
A
 6 a0001c0003t0028
a0001c0003t0035
a0001c0003t0048
others(3): Show 
a0001c0003t0028
a0001c0003t0035
a0001c0003t0048
a0001c0003t0061
a0001c0003t0073
a0001c0005t0035
 7 HG01891.hp1
HG02559.hp2
HG02615.hp2
others(4): Show 
HG01891.hp1
HG02559.hp2
HG02615.hp2
HG02723.hp1
HG02895.hp1
HG03486.hp2
NA18906.hp1
 3_prime_UTR_variant MODIFIER c.*2525A>T
c.*2525A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 8/8 2525 chr5 78777872
chr5:78777873 T
T
 A
A
 4 a0001c0003t0028
a0001c0003t0048
a0001c0003t0061
others(1): Show 
a0001c0003t0028
a0001c0003t0048
a0001c0003t0061
a0001c0003t0073
 5 HG01891.hp1
HG02615.hp2
HG02895.hp1
others(2): Show 
HG01891.hp1
HG02615.hp2
HG02895.hp1
HG03486.hp2
NA18906.hp1
 3_prime_UTR_variant MODIFIER c.*2524A>T
c.*2524A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 8/8 2524 chr5 78777873
chr5:78777922 T
T
 A
A
 1 a0001c0001t0040
a0001c0001t0040
 1 HG03654.hp1
HG03654.hp1
 3_prime_UTR_variant MODIFIER c.*2475A>T
c.*2475A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 8/8 2475 chr5 78777922
chr5:78777929 A
A
 G
G
 1 a0001c0007t0068
a0001c0007t0068
 1 HG02976.hp2
HG02976.hp2
 3_prime_UTR_variant MODIFIER c.*2468T>C
c.*2468T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 8/8 2468 chr5 78777929
chr5:78777930 T
T
 A
A
 1 a0001c0007t0068
a0001c0007t0068
 1 HG02976.hp2
HG02976.hp2
 3_prime_UTR_variant MODIFIER c.*2467A>T
c.*2467A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 8/8 2467 chr5 78777930
chr5:78778064 A
A
 G
G
 1 a0002c0002t0042
a0002c0002t0042
 1 HG00423.hp2
HG00423.hp2
 3_prime_UTR_variant MODIFIER c.*2333T>C
c.*2333T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 8/8 2333 chr5 78778064
chr5:78778107 A
A
 G
G
 1 a0002c0002t0045
a0002c0002t0045
 1 NA18946.hp1
NA18946.hp1
 3_prime_UTR_variant MODIFIER c.*2290T>C
c.*2290T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 8/8 2290 chr5 78778107
chr5:78778146 C
C
 T
T
 1 a0001c0003t0058
a0001c0003t0058
 1 HG03927.hp1
HG03927.hp1
 3_prime_UTR_variant MODIFIER c.*2251G>A
c.*2251G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 8/8 2251 chr5 78778146
chr5:78778154 T
T
 C
C
 1 a0002c0002t0030
a0002c0002t0030
 2 NA19004.hp1
NA19068.hp2
NA19004.hp1
NA19068.hp2
 3_prime_UTR_variant MODIFIER c.*2243A>G
c.*2243A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 8/8 2243 chr5 78778154
chr5:78778375 A
A
 C
C
 66 a0001c0001t0002
a0001c0001t0003
a0001c0001t0005
others(63): Show 
a0001c0001t0002
a0001c0001t0003
a0001c0001t0005
a0001c0001t0013
a0001c0001t0014
a0001c0001t0019
a0001c0001t0020
a0001c0001t0024
a0001c0001t0037
a0001c0001t0043
a0001c0001t0044
a0001c0003t0002
a0001c0003t0003
a0001c0003t0005
a0001c0003t0012
a0001c0003t0014
a0001c0003t0016
a0001c0003t0022
a0001c0003t0027
a0001c0003t0041
a0001c0003t0056
a0001c0005t0013
a0001c0005t0017
a0001c0005t0032
a0001c0005t0074
a0001c0005t0075
a0001c0005t0076
a0001c0007t0068
a0001c0008t0002
a0001c0009t0016
a0001c0015t0027
a0001c0017t0002
a0001c0018t0002
a0001c0019t0022
a0001c0021t0003
a0002c0002t0002
a0002c0002t0003
a0002c0002t0005
a0002c0002t0012
a0002c0002t0013
a0002c0002t0014
a0002c0002t0019
a0002c0002t0026
a0002c0002t0030
a0002c0002t0042
a0002c0002t0050
a0002c0002t0052
a0002c0002t0055
a0002c0002t0057
a0002c0002t0063
a0002c0002t0067
a0002c0010t0003
a0002c0011t0053
a0002c0013t0017
a0003c0004t0002
a0003c0004t0003
a0003c0004t0012
a0003c0004t0014
a0003c0004t0049
a0003c0004t0054
a0003c0004t0062
a0004c0006t0016
a0004c0006t0024
a0005c0016t0002
a0006c0020t0003
a0007c0012t0032
 172 HG00323.hp1
HG00323.hp2
HG00408.hp1
others(169): Show 
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp1
HG00741.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03834.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18950.hp1
NA18953.hp2
NA18954.hp1
NA18957.hp2
NA18959.hp1
NA18961.hp1
NA18963.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18978.hp1
NA18979.hp2
NA18984.hp2
NA18985.hp2
NA18988.hp1
NA18989.hp1
NA18989.hp2
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp2
NA19002.hp2
NA19004.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp2
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19077.hp2
NA19084.hp1
NA19085.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*2022T>G
c.*2022T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 8/8 2022 chr5 78778375
chr5:78778826 C
C
 A
A
 1 a0003c0004t0049
a0003c0004t0049
 1 NA19043.hp1
NA19043.hp1
 3_prime_UTR_variant MODIFIER c.*1571G>T
c.*1571G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 8/8 1571 chr5 78778826
chr5:78778928 G
G
 A
A
 12 a0001c0001t0021
a0001c0001t0024
a0001c0001t0025
others(9): Show 
a0001c0001t0021
a0001c0001t0024
a0001c0001t0025
a0001c0001t0051
a0001c0003t0025
a0001c0003t0041
a0002c0002t0025
a0002c0002t0050
a0002c0002t0063
a0002c0002t0064
a0003c0004t0062
a0004c0006t0024
 15 HG00323.hp2
HG00408.hp1
HG01109.hp1
others(12): Show 
HG00323.hp2
HG00408.hp1
HG01109.hp1
HG01167.hp2
HG01192.hp2
HG01258.hp1
HG01361.hp2
HG02027.hp1
HG02602.hp2
HG02683.hp1
NA18943.hp2
NA18959.hp2
NA18963.hp1
NA18969.hp2
NA18978.hp2
 3_prime_UTR_variant MODIFIER c.*1469C>T
c.*1469C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 8/8 1469 chr5 78778928
chr5:78778977 C
C
 T
T
 1 a0001c0001t0020
a0001c0001t0020
 3 NA18961.hp1
NA19009.hp1
NA19077.hp2
NA18961.hp1
NA19009.hp1
NA19077.hp2
 3_prime_UTR_variant MODIFIER c.*1420G>A
c.*1420G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 8/8 1420 chr5 78778977
chr5:78779010 G
G
 A
A
 1 a0003c0004t0029
a0003c0004t0029
 2 HG03490.hp2
HG03492.hp1
HG03490.hp2
HG03492.hp1
 3_prime_UTR_variant MODIFIER c.*1387C>T
c.*1387C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 8/8 1387 chr5 78779010
chr5:78779024 T
T
 C
C
 1 a0001c0001t0065
a0001c0001t0065
 1 NA19066.hp2
NA19066.hp2
 3_prime_UTR_variant MODIFIER c.*1373A>G
c.*1373A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 8/8 1373 chr5 78779024
chr5:78779095 C
C
 A
A
 80 a0001c0001t0003
a0001c0001t0004
a0001c0001t0006
others(77): Show 
a0001c0001t0003
a0001c0001t0004
a0001c0001t0006
a0001c0001t0009
a0001c0001t0011
a0001c0001t0013
a0001c0001t0019
a0001c0001t0024
a0001c0001t0025
a0001c0001t0031
a0001c0001t0034
a0001c0001t0059
a0001c0001t0065
a0001c0003t0003
a0001c0003t0006
a0001c0003t0009
a0001c0003t0016
a0001c0003t0022
a0001c0003t0025
a0001c0003t0031
a0001c0003t0034
a0001c0003t0035
a0001c0003t0041
a0001c0003t0056
a0001c0003t0058
a0001c0003t0060
a0001c0003t0061
a0001c0003t0069
a0001c0003t0070
a0001c0003t0073
a0001c0005t0013
a0001c0005t0017
a0001c0005t0032
a0001c0005t0035
a0001c0005t0036
a0001c0005t0074
a0001c0005t0075
a0001c0005t0076
a0001c0007t0004
a0001c0007t0036
a0001c0007t0068
a0001c0007t0077
a0001c0009t0016
a0001c0019t0022
a0001c0021t0003
a0001c0022t0006
a0002c0002t0003
a0002c0002t0004
a0002c0002t0006
a0002c0002t0009
a0002c0002t0011
a0002c0002t0013
a0002c0002t0019
a0002c0002t0023
a0002c0002t0025
a0002c0002t0030
a0002c0002t0033
a0002c0002t0052
a0002c0002t0055
a0002c0002t0057
a0002c0002t0063
a0002c0002t0064
a0002c0002t0067
a0002c0002t0071
a0002c0010t0003
a0002c0011t0053
a0002c0013t0017
a0003c0004t0003
a0003c0004t0004
a0003c0004t0011
a0003c0004t0023
a0003c0004t0033
a0003c0004t0054
a0003c0004t0062
a0003c0004t0072
a0004c0006t0004
a0004c0006t0016
a0004c0006t0024
a0006c0020t0003
a0007c0012t0032
 167 HG00323.hp1
HG00323.hp2
HG00544.hp2
others(164): Show 
HG00323.hp1
HG00323.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp1
HG00733.hp2
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp2
HG02451.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18950.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18979.hp1
NA18983.hp2
NA18985.hp2
NA18986.hp1
NA18988.hp2
NA18989.hp2
NA18993.hp1
NA18994.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19062.hp2
NA19063.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*1302G>T
c.*1302G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 8/8 1302 chr5 78779095
chr5:78779140 T
T
 G
G
 23 a0001c0001t0006
a0001c0001t0034
a0001c0003t0006
others(20): Show 
a0001c0001t0006
a0001c0001t0034
a0001c0003t0006
a0001c0003t0016
a0001c0003t0034
a0001c0003t0035
a0001c0003t0069
a0001c0003t0070
a0001c0003t0073
a0001c0005t0032
a0001c0005t0035
a0001c0007t0068
a0001c0009t0016
a0001c0022t0006
a0002c0002t0006
a0002c0002t0033
a0002c0002t0066
a0002c0002t0067
a0002c0002t0071
a0003c0004t0033
a0003c0004t0072
a0004c0006t0016
a0007c0012t0032
 38 HG00323.hp1
HG00733.hp2
HG00741.hp2
others(35): Show 
HG00323.hp1
HG00733.hp2
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp2
HG01517.hp1
HG01891.hp2
HG01975.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02723.hp1
HG02735.hp1
HG02818.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp1
HG03195.hp1
HG03516.hp2
HG04115.hp1
NA18986.hp1
NA19043.hp2
NA19240.hp1
NA20129.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*1257A>C
c.*1257A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 8/8 1257 chr5 78779140
chr5:78779942 C
C
 T
T
 3 a0001c0005t0036
a0001c0005t0074
a0001c0007t0036
a0001c0005t0036
a0001c0005t0074
a0001c0007t0036
 3 HG02922.hp1
HG03540.hp1
HG03579.hp1
HG02922.hp1
HG03540.hp1
HG03579.hp1
 3_prime_UTR_variant MODIFIER c.*455G>A
c.*455G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 8/8 455 chr5 78779942
chr5:78780195 T
T
 C
C
 8 a0001c0005t0017
a0001c0005t0036
a0001c0005t0074
others(5): Show 
a0001c0005t0017
a0001c0005t0036
a0001c0005t0074
a0001c0005t0075
a0001c0005t0076
a0001c0007t0036
a0001c0007t0077
a0002c0013t0017
 11 HG01167.hp1
HG01496.hp1
HG01884.hp1
others(8): Show 
HG01167.hp1
HG01496.hp1
HG01884.hp1
HG02055.hp1
HG02451.hp1
HG02622.hp1
HG02922.hp1
HG02976.hp1
HG03540.hp1
HG03579.hp1
NA18906.hp2
 3_prime_UTR_variant MODIFIER c.*202A>G
c.*202A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 8/8 202 chr5 78780195
chr5:78780337 C
C
 T
T
 5 a0001c0001t0037
a0001c0001t0039
a0001c0001t0040
others(2): Show 
a0001c0001t0037
a0001c0001t0039
a0001c0001t0040
a0001c0003t0041
a0002c0002t0038
 5 HG00140.hp1
HG00323.hp2
HG01175.hp1
others(2): Show 
HG00140.hp1
HG00323.hp2
HG01175.hp1
HG03654.hp1
NA20752.hp1
 3_prime_UTR_variant MODIFIER c.*60G>A
c.*60G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 8/8 60 chr5 78780337

chr:pos ref alt #
# of ghapid:genebody level
 ghapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid genebody_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chr5:78780694 G
G
 C
C
 48 a0001c0001t0003g0021
a0001c0001t0004g0009
a0001c0001t0004g0020
others(45): Show 
a0001c0001t0003g0021
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0083
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0009g0226
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0065g0017
a0001c0003t0006g0103
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0009g0281
a0001c0003t0022g0178
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0003t0073g0099
a0002c0002t0003g0068
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0006g0014
a0002c0002t0006g0191
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0023g0162
a0002c0002t0052g0098
a0002c0011t0053g0002
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0023g0148
a0003c0004t0023g0151
a0004c0006t0004g0188
a0004c0006t0004g0215
 48 HG00544.hp2
HG00738.hp2
HG01070.hp1
others(45): Show 
HG00544.hp2
HG00738.hp2
HG01070.hp1
HG01358.hp1
HG01496.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02040.hp2
HG02071.hp2
HG02080.hp1
HG02145.hp1
HG02293.hp2
HG02523.hp2
HG02615.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03098.hp2
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp2
HG04184.hp1
NA18906.hp1
NA18944.hp1
NA18951.hp2
NA18954.hp2
NA18972.hp1
NA18975.hp2
NA18983.hp2
NA18988.hp2
NA18993.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19011.hp1
NA19066.hp2
NA19074.hp2
NA19084.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1337-32C>G
c.1337-32C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 7/7 chr5 78780694
chr5:78780879 G
G
 A
A
 20 a0001c0001t0004g0278
a0001c0005t0013g0004
a0001c0005t0017g0003
others(17): Show 
a0001c0001t0004g0278
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0022t0006g0359
a0002c0013t0017g0015
 20 HG01167.hp1
HG01496.hp1
HG01884.hp1
others(17): Show 
HG01167.hp1
HG01496.hp1
HG01884.hp1
HG01891.hp2
HG02055.hp1
HG02451.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp2
NA19240.hp1
NA19240.hp2
 intron_variant MODIFIER c.1337-217C>T
c.1337-217C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 7/7 chr5 78780879
chr5:78781025 A
A
 G
G
 1 a0003c0004t0003g0292
a0003c0004t0003g0292
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.1337-363T>C
c.1337-363T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 7/7 chr5 78781025
chr5:78781210 G
G
 A
A
 15 a0001c0001t0004g0058
a0001c0001t0024g0182
a0001c0001t0025g0316
others(12): Show 
a0001c0001t0004g0058
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0003t0025g0341
a0001c0003t0031g0119
a0001c0003t0056g0022
a0002c0002t0003g0129
a0002c0002t0025g0213
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0003c0004t0062g0133
a0004c0006t0024g0061
a0004c0006t0024g0175
 15 HG01109.hp1
HG01167.hp2
HG01175.hp2
others(12): Show 
HG01109.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01258.hp1
HG01361.hp2
HG02027.hp1
HG02602.hp2
HG02683.hp1
HG03098.hp1
HG03130.hp2
HG03486.hp1
HG03942.hp2
NA18959.hp2
NA20805.hp2
 intron_variant MODIFIER c.1337-548C>T
c.1337-548C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 7/7 chr5 78781210
chr5:78781222 C
C
 T
T
 7 a0001c0001t0034g0072
a0001c0003t0006g0156
a0001c0003t0006g0274
others(4): Show 
a0001c0001t0034g0072
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0016g0258
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0069g0273
 7 HG02572.hp1
HG02723.hp1
HG02818.hp1
others(4): Show 
HG02572.hp1
HG02723.hp1
HG02818.hp1
HG02895.hp2
HG02897.hp1
HG03139.hp1
HG03195.hp1
 intron_variant MODIFIER c.1337-560G>A
c.1337-560G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 7/7 chr5 78781222
chr5:78781247 C
C
 T
T
 17 a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
others(14): Show 
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0140
a0001c0001t0003g0167
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0011g0046
a0001c0001t0013g0227
a0001c0001t0059g0332
a0001c0003t0003g0334
a0001c0003t0022g0229
a0002c0002t0003g0137
a0002c0002t0003g0247
a0002c0002t0013g0300
a0002c0002t0055g0094
a0003c0004t0003g0095
 17 HG00609.hp1
HG02074.hp1
HG02129.hp2
others(14): Show 
HG00609.hp1
HG02074.hp1
HG02129.hp2
HG03017.hp2
HG03669.hp2
HG04184.hp2
NA18947.hp2
NA18948.hp2
NA18954.hp1
NA18957.hp2
NA18970.hp2
NA18985.hp2
NA19000.hp1
NA19001.hp2
NA19063.hp1
NA19084.hp1
NA19085.hp1
 intron_variant MODIFIER c.1337-585G>A
c.1337-585G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 7/7 chr5 78781247
chr5:78781292 G
G
 GTTAA
GTTAA
 7 a0001c0001t0034g0072
a0001c0003t0006g0156
a0001c0003t0006g0274
others(4): Show 
a0001c0001t0034g0072
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0016g0258
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0069g0273
 7 HG02572.hp1
HG02723.hp1
HG02818.hp1
others(4): Show 
HG02572.hp1
HG02723.hp1
HG02818.hp1
HG02895.hp2
HG02897.hp1
HG03139.hp1
HG03195.hp1
 intron_variant MODIFIER c.1336+556_1336+559d
others(6): Show 
c.1336+556_1336+559dupTTAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 7/7 chr5 78781292
chr5:78781323 C
C
 CT
CT
 178 a0001c0001t0001g0135
a0001c0001t0002g0039
a0001c0001t0002g0104
others(175): Show 
a0001c0001t0001g0135
a0001c0001t0002g0039
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0317
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0140
a0001c0001t0003g0167
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0250
a0001c0001t0008g0030
a0001c0001t0008g0223
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0018g0130
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0059g0332
a0001c0003t0002g0013
a0001c0003t0002g0078
a0001c0003t0002g0262
a0001c0003t0002g0276
a0001c0003t0002g0351
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0007g0352
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0035g0165
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0018t0002g0016
a0002c0002t0001g0054
a0002c0002t0001g0345
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0312
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0025g0213
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0067g0203
a0002c0010t0003g0161
a0002c0010t0003g0322
a0003c0004t0001g0001
a0003c0004t0001g0153
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
 179 HG00280.hp1
HG00280.hp2
HG00408.hp2
others(176): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp2
HG02027.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18963.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp2
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19043.hp1
NA19057.hp2
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1336+528dupA
c.1336+528dupA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 7/7 chr5 78781323
chr5:78781323 C
C
 CTT
CTT
 22 a0001c0001t0003g0019
a0001c0001t0003g0190
a0001c0001t0004g0058
others(19): Show 
a0001c0001t0003g0019
a0001c0001t0003g0190
a0001c0001t0004g0058
a0001c0001t0004g0278
a0001c0001t0031g0324
a0001c0003t0003g0050
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0077g0070
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0022t0006g0359
a0002c0002t0003g0247
a0002c0002t0009g0193
a0002c0013t0017g0015
 22 HG01167.hp1
HG01496.hp1
HG01884.hp1
others(19): Show 
HG01167.hp1
HG01496.hp1
HG01884.hp1
HG01891.hp2
HG02004.hp1
HG02055.hp1
HG02451.hp1
HG02622.hp1
HG02622.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp1
HG03130.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
NA19000.hp1
NA19000.hp2
NA19043.hp2
NA19065.hp2
NA19088.hp2
NA19240.hp1
 intron_variant MODIFIER c.1336+527_1336+528d
others(4): Show 
c.1336+527_1336+528dupAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 7/7 chr5 78781323
chr5:78781323 CT
CT
 C
C
 11 a0001c0001t0001g0035
a0001c0001t0001g0245
a0001c0001t0003g0214
others(8): Show 
a0001c0001t0001g0035
a0001c0001t0001g0245
a0001c0001t0003g0214
a0001c0001t0007g0333
a0001c0003t0007g0012
a0001c0003t0041g0155
a0002c0002t0015g0207
a0002c0002t0023g0162
a0003c0004t0023g0148
a0003c0014t0015g0202
a0007c0012t0032g0180
 11 HG00323.hp2
HG01070.hp1
HG01074.hp1
others(8): Show 
HG00323.hp2
HG01070.hp1
HG01074.hp1
HG01943.hp2
HG02698.hp2
HG02735.hp2
HG02896.hp2
NA18951.hp1
NA18957.hp1
NA18960.hp2
NA20805.hp1
 intron_variant MODIFIER c.1336+528delA
c.1336+528delA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 7/7 chr5 78781323
chr5:78781323 CTTTTTTT
others(5): Show 
CTTTTTTTTTTTT
 C
C
 1 a0001c0003t0070g0251
a0001c0003t0070g0251
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.1336+517_1336+528d
others(14): Show 
c.1336+517_1336+528delAAAAAAAAAAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 7/7 chr5 78781323
chr5:78782006 A
A
 G
G
 25 a0001c0001t0004g0278
a0001c0001t0034g0072
a0001c0003t0002g0078
others(22): Show 
a0001c0001t0004g0278
a0001c0001t0034g0072
a0001c0003t0002g0078
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0016g0258
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0069g0273
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0077g0070
a0001c0018t0002g0016
a0002c0013t0017g0015
a0005c0016t0002g0237
 25 HG01167.hp1
HG01496.hp1
HG01884.hp1
others(22): Show 
HG01167.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG02055.hp1
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG03139.hp1
HG03195.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19240.hp2
 intron_variant MODIFIER c.1214-32T>C
c.1214-32T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78782006
chr5:78782072 A
A
 C
C
 2 a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0010t0003g0161
a0002c0010t0003g0322
 2 HG01515.hp1
HG01517.hp2
HG01515.hp1
HG01517.hp2
 intron_variant MODIFIER c.1214-98T>G
c.1214-98T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78782072
chr5:78782331 C
C
 T
T
 27 a0001c0001t0004g0278
a0001c0001t0034g0072
a0001c0003t0006g0156
others(24): Show 
a0001c0001t0004g0278
a0001c0001t0034g0072
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0016g0258
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0069g0273
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0022t0006g0359
a0002c0013t0017g0015
 27 HG01167.hp1
HG01496.hp1
HG01884.hp1
others(24): Show 
HG01167.hp1
HG01496.hp1
HG01884.hp1
HG01891.hp2
HG02055.hp1
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02818.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03139.hp1
HG03195.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp2
NA19240.hp1
NA19240.hp2
 intron_variant MODIFIER c.1214-357G>A
c.1214-357G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78782331
chr5:78782529 C
C
 T
T
 76 a0001c0001t0003g0021
a0001c0001t0004g0009
a0001c0001t0004g0020
others(73): Show 
a0001c0001t0003g0021
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0009g0226
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0034g0072
a0001c0001t0065g0017
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0009g0281
a0001c0003t0016g0258
a0001c0003t0022g0178
a0001c0003t0028g0051
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0022t0006g0359
a0002c0002t0003g0068
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0006g0014
a0002c0002t0006g0191
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0023g0162
a0002c0002t0052g0098
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0023g0148
a0003c0004t0023g0151
a0004c0006t0004g0188
a0004c0006t0004g0215
 77 HG00544.hp2
HG00738.hp2
HG01070.hp1
others(74): Show 
HG00544.hp2
HG00738.hp2
HG01070.hp1
HG01167.hp1
HG01257.hp2
HG01258.hp2
HG01358.hp1
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02080.hp1
HG02145.hp1
HG02293.hp2
HG02451.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03710.hp2
HG03834.hp2
HG04184.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18951.hp2
NA18954.hp2
NA18972.hp1
NA18975.hp2
NA18983.hp2
NA18988.hp2
NA18993.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19011.hp1
NA19043.hp2
NA19066.hp2
NA19074.hp2
NA19084.hp2
NA19240.hp1
NA19240.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1214-555G>A
c.1214-555G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78782529
chr5:78782634 A
A
 C
C
 6 a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0007t0068g0111
others(3): Show 
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0007t0068g0111
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0022t0006g0359
 6 HG01891.hp2
HG02559.hp2
HG02965.hp1
others(3): Show 
HG01891.hp2
HG02559.hp2
HG02965.hp1
HG02976.hp2
NA19043.hp2
NA19240.hp1
 intron_variant MODIFIER c.1214-660T>G
c.1214-660T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78782634
chr5:78782676 G
G
 A
A
 6 a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0007t0068g0111
others(3): Show 
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0007t0068g0111
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0022t0006g0359
 6 HG01891.hp2
HG02559.hp2
HG02965.hp1
others(3): Show 
HG01891.hp2
HG02559.hp2
HG02965.hp1
HG02976.hp2
NA19043.hp2
NA19240.hp1
 intron_variant MODIFIER c.1214-702C>T
c.1214-702C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78782676
chr5:78782691 C
C
 T
T
 1 a0001c0001t0003g0021
a0001c0001t0003g0021
 1 NA18972.hp1
NA18972.hp1
 intron_variant MODIFIER c.1214-717G>A
c.1214-717G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78782691
chr5:78782734 C
C
 T
T
 29 a0001c0001t0034g0072
a0001c0003t0006g0156
a0001c0003t0006g0274
others(26): Show 
a0001c0001t0034g0072
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0016g0258
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0069g0273
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0017t0002g0088
a0001c0022t0006g0359
a0002c0013t0017g0015
 29 HG01167.hp1
HG01496.hp1
HG01884.hp1
others(26): Show 
HG01167.hp1
HG01496.hp1
HG01884.hp1
HG01891.hp2
HG02055.hp1
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02622.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03139.hp1
HG03195.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp2
NA19240.hp1
NA19240.hp2
 intron_variant MODIFIER c.1214-760G>A
c.1214-760G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78782734
chr5:78782767 G
G
 A
A
 7 a0001c0001t0003g0021
a0001c0001t0065g0017
a0001c0003t0009g0281
others(4): Show 
a0001c0001t0003g0021
a0001c0001t0065g0017
a0001c0003t0009g0281
a0002c0002t0023g0162
a0002c0011t0053g0002
a0003c0004t0023g0148
a0003c0004t0023g0151
 7 HG00738.hp2
HG01070.hp1
HG02040.hp2
others(4): Show 
HG00738.hp2
HG01070.hp1
HG02040.hp2
HG04184.hp1
NA18972.hp1
NA19066.hp2
NA20805.hp1
 intron_variant MODIFIER c.1214-793C>T
c.1214-793C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78782767
chr5:78782785 G
G
 A
A
 10 a0001c0001t0034g0072
a0001c0003t0006g0156
a0001c0003t0006g0274
others(7): Show 
a0001c0001t0034g0072
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0016g0258
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0069g0273
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0017t0002g0088
 10 HG02572.hp1
HG02615.hp1
HG02717.hp2
others(7): Show 
HG02572.hp1
HG02615.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02897.hp1
HG03139.hp1
HG03195.hp1
 intron_variant MODIFIER c.1214-811C>T
c.1214-811C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78782785
chr5:78783147 G
G
 A
A
 1 a0001c0001t0002g0143
a0001c0001t0002g0143
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.1214-1173C>T
c.1214-1173C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78783147
chr5:78783702 T
T
 C
C
 5 a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
others(2): Show 
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0051g0239
a0002c0002t0050g0008
 5 HG00408.hp1
NA18943.hp2
NA18963.hp1
others(2): Show 
HG00408.hp1
NA18943.hp2
NA18963.hp1
NA18969.hp2
NA18978.hp2
 intron_variant MODIFIER c.1214-1728A>G
c.1214-1728A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78783702
chr5:78783745 A
A
 G
G
 1 a0002c0002t0019g0303
a0002c0002t0019g0303
 1 NA18949.hp2
NA18949.hp2
 intron_variant MODIFIER c.1214-1771T>C
c.1214-1771T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78783745
chr5:78783794 AT
AT
 A
A
 6 a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0007t0068g0111
others(3): Show 
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0007t0068g0111
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0022t0006g0359
 6 HG01891.hp2
HG02559.hp2
HG02965.hp1
others(3): Show 
HG01891.hp2
HG02559.hp2
HG02965.hp1
HG02976.hp2
NA19043.hp2
NA19240.hp1
 intron_variant MODIFIER c.1214-1821delA
c.1214-1821delA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78783794
chr5:78783807 G
G
 A
A
 96 a0001c0001t0003g0021
a0001c0001t0003g0159
a0001c0001t0004g0009
others(93): Show 
a0001c0001t0003g0021
a0001c0001t0003g0159
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0009g0226
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0065g0017
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0009g0281
a0001c0003t0016g0258
a0001c0003t0022g0178
a0001c0003t0025g0341
a0001c0003t0028g0051
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0017t0002g0088
a0001c0019t0022g0233
a0001c0022t0006g0359
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0006g0014
a0002c0002t0006g0191
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0062g0133
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0024g0061
a0004c0006t0024g0175
 97 HG00544.hp2
HG00738.hp2
HG01070.hp1
others(94): Show 
HG00544.hp2
HG00738.hp2
HG01070.hp1
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01358.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02080.hp1
HG02145.hp1
HG02293.hp2
HG02451.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03710.hp2
HG03834.hp2
HG03942.hp2
HG04184.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18951.hp2
NA18954.hp2
NA18959.hp2
NA18972.hp1
NA18975.hp2
NA18983.hp2
NA18988.hp2
NA18993.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19066.hp2
NA19074.hp2
NA19084.hp2
NA19240.hp1
NA19240.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1214-1833C>T
c.1214-1833C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78783807
chr5:78783996 G
G
 A
A
 2 a0001c0003t0056g0022
a0002c0002t0003g0129
a0001c0003t0056g0022
a0002c0002t0003g0129
 2 HG03942.hp2
NA20805.hp2
HG03942.hp2
NA20805.hp2
 intron_variant MODIFIER c.1214-2022C>T
c.1214-2022C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78783996
chr5:78784005 T
T
 A
A
 12 a0001c0001t0002g0039
a0001c0001t0003g0063
a0001c0001t0005g0038
others(9): Show 
a0001c0001t0002g0039
a0001c0001t0003g0063
a0001c0001t0005g0038
a0001c0005t0013g0004
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0022t0006g0359
a0004c0006t0016g0163
 12 HG00323.hp1
HG00423.hp1
HG01891.hp2
others(9): Show 
HG00323.hp1
HG00423.hp1
HG01891.hp2
HG02523.hp1
HG02559.hp2
HG02965.hp1
HG02976.hp2
HG03540.hp2
HG04184.hp2
NA19043.hp2
NA19240.hp1
NA19240.hp2
 intron_variant MODIFIER c.1214-2031A>T
c.1214-2031A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78784005
chr5:78784005 T
T
 TA
TA
 11 a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
others(8): Show 
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0036g0259
a0001c0007t0077g0070
a0002c0013t0017g0015
 11 HG01167.hp1
HG01496.hp1
HG01884.hp1
others(8): Show 
HG01167.hp1
HG01496.hp1
HG01884.hp1
HG02055.hp1
HG02451.hp1
HG02622.hp1
HG02922.hp1
HG02976.hp1
HG03540.hp1
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.1214-2032dupT
c.1214-2032dupT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78784005
chr5:78784060 T
T
 C
C
 95 a0001c0001t0003g0021
a0001c0001t0004g0009
a0001c0001t0004g0020
others(92): Show 
a0001c0001t0003g0021
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0009g0226
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0065g0017
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0009g0281
a0001c0003t0016g0258
a0001c0003t0022g0178
a0001c0003t0025g0341
a0001c0003t0028g0051
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0017t0002g0088
a0001c0019t0022g0233
a0001c0022t0006g0359
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0006g0014
a0002c0002t0006g0191
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0062g0133
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0024g0061
a0004c0006t0024g0175
 96 HG00544.hp2
HG00738.hp2
HG01070.hp1
others(93): Show 
HG00544.hp2
HG00738.hp2
HG01070.hp1
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01358.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02080.hp1
HG02145.hp1
HG02293.hp2
HG02451.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03710.hp2
HG03834.hp2
HG03942.hp2
HG04184.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18951.hp2
NA18954.hp2
NA18959.hp2
NA18972.hp1
NA18975.hp2
NA18983.hp2
NA18988.hp2
NA18993.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19011.hp1
NA19043.hp2
NA19066.hp2
NA19074.hp2
NA19084.hp2
NA19240.hp1
NA19240.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1214-2086A>G
c.1214-2086A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78784060
chr5:78784132 G
G
 A
A
 1 a0001c0003t0046g0343
a0001c0003t0046g0343
 1 HG01069.hp1
HG01069.hp1
 intron_variant MODIFIER c.1214-2158C>T
c.1214-2158C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78784132
chr5:78784155 T
T
 C
C
 2 a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0004g0096
a0002c0002t0004g0097
 2 NA18951.hp2
NA19001.hp1
NA18951.hp2
NA19001.hp1
 intron_variant MODIFIER c.1214-2181A>G
c.1214-2181A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78784155
chr5:78784398 A
A
 G
G
 1 a0001c0001t0004g0009
a0001c0001t0004g0009
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.1214-2424T>C
c.1214-2424T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78784398
chr5:78784490 C
C
 T
T
 94 a0001c0001t0003g0021
a0001c0001t0003g0159
a0001c0001t0004g0009
others(91): Show 
a0001c0001t0003g0021
a0001c0001t0003g0159
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0009g0226
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0065g0017
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0009g0281
a0001c0003t0016g0258
a0001c0003t0022g0178
a0001c0003t0025g0341
a0001c0003t0028g0051
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0017t0002g0088
a0001c0019t0022g0233
a0001c0022t0006g0359
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0004g0079
a0002c0002t0006g0014
a0002c0002t0006g0191
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0062g0133
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0024g0061
a0004c0006t0024g0175
 95 HG00544.hp2
HG00738.hp2
HG01070.hp1
others(92): Show 
HG00544.hp2
HG00738.hp2
HG01070.hp1
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01358.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02080.hp1
HG02145.hp1
HG02293.hp2
HG02451.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03710.hp2
HG03834.hp2
HG03942.hp2
HG04184.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18954.hp2
NA18959.hp2
NA18972.hp1
NA18975.hp2
NA18983.hp2
NA18988.hp2
NA18993.hp1
NA19002.hp2
NA19003.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19066.hp2
NA19074.hp2
NA19084.hp2
NA19240.hp1
NA19240.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1214-2516G>A
c.1214-2516G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78784490
chr5:78784586 C
C
 A
A
 16 a0001c0001t0004g0058
a0001c0001t0004g0278
a0001c0001t0024g0182
others(13): Show 
a0001c0001t0004g0058
a0001c0001t0004g0278
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0003t0025g0341
a0001c0003t0031g0119
a0001c0003t0056g0022
a0002c0002t0003g0129
a0002c0002t0025g0213
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0003c0004t0062g0133
a0004c0006t0024g0061
a0004c0006t0024g0175
 16 HG01109.hp1
HG01167.hp2
HG01175.hp2
others(13): Show 
HG01109.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01258.hp1
HG01361.hp2
HG02027.hp1
HG02602.hp2
HG02622.hp2
HG02683.hp1
HG03098.hp1
HG03130.hp2
HG03486.hp1
HG03942.hp2
NA18959.hp2
NA20805.hp2
 intron_variant MODIFIER c.1214-2612G>T
c.1214-2612G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78784586
chr5:78784629 G
G
 C
C
 76 a0001c0001t0003g0021
a0001c0001t0004g0009
a0001c0001t0004g0020
others(73): Show 
a0001c0001t0003g0021
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0009g0226
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0065g0017
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0009g0281
a0001c0003t0016g0258
a0001c0003t0022g0178
a0001c0003t0025g0341
a0001c0003t0028g0051
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0017t0002g0088
a0001c0019t0022g0233
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0006g0014
a0002c0002t0006g0191
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0062g0133
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0024g0061
a0004c0006t0024g0175
 77 HG00544.hp2
HG00738.hp2
HG01070.hp1
others(74): Show 
HG00544.hp2
HG00738.hp2
HG01070.hp1
HG01109.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01358.hp1
HG01361.hp2
HG01496.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp2
HG02071.hp2
HG02080.hp1
HG02145.hp1
HG02293.hp2
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02683.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp2
HG03942.hp2
HG04184.hp1
NA18906.hp1
NA18944.hp1
NA18951.hp2
NA18954.hp2
NA18959.hp2
NA18972.hp1
NA18975.hp2
NA18983.hp2
NA18988.hp2
NA18993.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19011.hp1
NA19066.hp2
NA19074.hp2
NA19084.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1214-2655C>G
c.1214-2655C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78784629
chr5:78784642 A
A
 C
C
 3 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
 3 NA18947.hp1
NA18962.hp1
NA19010.hp1
NA18947.hp1
NA18962.hp1
NA19010.hp1
 intron_variant MODIFIER c.1214-2668T>G
c.1214-2668T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78784642
chr5:78784760 A
A
 C
C
 1 a0001c0001t0001g0305
a0001c0001t0001g0305
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.1214-2786T>G
c.1214-2786T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78784760
chr5:78784798 C
C
 CT
CT
 56 a0001c0001t0001g0305
a0001c0001t0003g0021
a0001c0001t0003g0159
others(53): Show 
a0001c0001t0001g0305
a0001c0001t0003g0021
a0001c0001t0003g0159
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0083
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0009g0226
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0105
a0001c0001t0065g0017
a0001c0003t0002g0160
a0001c0003t0002g0342
a0001c0003t0006g0103
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0009g0281
a0001c0003t0022g0178
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0002c0002t0002g0125
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0006g0014
a0002c0002t0006g0191
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0014g0106
a0002c0002t0023g0162
a0002c0002t0052g0098
a0002c0002t0063g0198
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0023g0148
a0003c0004t0023g0151
a0004c0006t0004g0188
a0004c0006t0004g0215
 57 HG00544.hp2
HG00738.hp2
HG01070.hp1
others(54): Show 
HG00544.hp2
HG00738.hp2
HG01070.hp1
HG01109.hp1
HG01257.hp2
HG01258.hp2
HG01358.hp1
HG01496.hp2
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02071.hp2
HG02080.hp1
HG02135.hp2
HG02145.hp1
HG02523.hp2
HG02615.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03098.hp2
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp2
HG03942.hp2
HG04184.hp1
NA18906.hp1
NA18944.hp1
NA18951.hp2
NA18954.hp2
NA18972.hp1
NA18975.hp2
NA18978.hp1
NA18983.hp2
NA18993.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19011.hp1
NA19030.hp2
NA19066.hp2
NA19074.hp2
NA19084.hp2
NA19240.hp2
NA20752.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1214-2825dupA
c.1214-2825dupA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78784798
chr5:78784856 T
T
 C
C
 3 a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0003t0006g0267
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0003t0006g0267
 3 HG02145.hp1
HG03098.hp2
HG03516.hp2
HG02145.hp1
HG03098.hp2
HG03516.hp2
 intron_variant MODIFIER c.1214-2882A>G
c.1214-2882A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78784856
chr5:78784955 T
T
 C
C
 2 a0003c0004t0003g0292
a0003c0004t0054g0142
a0003c0004t0003g0292
a0003c0004t0054g0142
 2 HG00642.hp1
HG02280.hp1
HG00642.hp1
HG02280.hp1
 intron_variant MODIFIER c.1214-2981A>G
c.1214-2981A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78784955
chr5:78784988 CAG
CAG
 C
C
 4 a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
others(1): Show 
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0003t0002g0320
 4 HG01433.hp1
HG01993.hp1
HG02071.hp1
others(1): Show 
HG01433.hp1
HG01993.hp1
HG02071.hp1
NA18952.hp1
 intron_variant MODIFIER c.1214-3016_1214-301
others(6): Show 
c.1214-3016_1214-3015delCT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78784988
chr5:78785025 C
C
 T
T
 1 a0001c0001t0025g0316
a0001c0001t0025g0316
 1 NA18959.hp2
NA18959.hp2
 intron_variant MODIFIER c.1214-3051G>A
c.1214-3051G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78785025
chr5:78785040 C
C
 T
T
 1 a0001c0003t0002g0082
a0001c0003t0002g0082
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.1214-3066G>A
c.1214-3066G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78785040
chr5:78785078 G
G
 A
A
 7 a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
others(4): Show 
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0017t0002g0088
a0001c0019t0022g0233
 7 HG01433.hp1
HG01993.hp1
HG02615.hp1
others(4): Show 
HG01433.hp1
HG01993.hp1
HG02615.hp1
HG02717.hp2
HG02886.hp1
HG03130.hp1
NA18952.hp1
 intron_variant MODIFIER c.1214-3104C>T
c.1214-3104C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78785078
chr5:78785233 AT
AT
 A
A
 47 a0001c0001t0003g0021
a0001c0001t0004g0009
a0001c0001t0004g0020
others(44): Show 
a0001c0001t0003g0021
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0083
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0009g0226
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0065g0017
a0001c0003t0006g0103
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0009g0281
a0001c0003t0022g0178
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0003t0073g0099
a0002c0002t0003g0068
a0002c0002t0004g0079
a0002c0002t0006g0014
a0002c0002t0006g0191
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0023g0162
a0002c0002t0052g0098
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0023g0148
a0003c0004t0023g0151
a0004c0006t0004g0188
a0004c0006t0004g0215
 48 HG00544.hp2
HG00738.hp2
HG01070.hp1
others(45): Show 
HG00544.hp2
HG00738.hp2
HG01070.hp1
HG01257.hp2
HG01258.hp2
HG01358.hp1
HG01496.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02040.hp2
HG02071.hp2
HG02080.hp1
HG02145.hp1
HG02293.hp2
HG02523.hp2
HG02615.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03098.hp2
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp2
HG04184.hp1
NA18906.hp1
NA18944.hp1
NA18954.hp2
NA18972.hp1
NA18975.hp2
NA18983.hp2
NA18988.hp2
NA18993.hp1
NA19002.hp2
NA19003.hp2
NA19011.hp1
NA19066.hp2
NA19074.hp2
NA19084.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1214-3260delA
c.1214-3260delA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78785233
chr5:78785566 GT
GT
 G
G
 94 a0001c0001t0003g0021
a0001c0001t0003g0159
a0001c0001t0004g0009
others(91): Show 
a0001c0001t0003g0021
a0001c0001t0003g0159
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0009g0226
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0065g0017
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0009g0281
a0001c0003t0016g0258
a0001c0003t0022g0178
a0001c0003t0025g0341
a0001c0003t0028g0051
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0017t0002g0088
a0001c0019t0022g0233
a0001c0022t0006g0359
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0004g0079
a0002c0002t0006g0014
a0002c0002t0006g0191
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0062g0133
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0024g0061
a0004c0006t0024g0175
 95 HG00544.hp2
HG00738.hp2
HG01070.hp1
others(92): Show 
HG00544.hp2
HG00738.hp2
HG01070.hp1
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01358.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02080.hp1
HG02145.hp1
HG02293.hp2
HG02451.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03710.hp2
HG03834.hp2
HG03942.hp2
HG04184.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18954.hp2
NA18959.hp2
NA18972.hp1
NA18975.hp2
NA18983.hp2
NA18988.hp2
NA18993.hp1
NA19002.hp2
NA19003.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19066.hp2
NA19074.hp2
NA19084.hp2
NA19240.hp1
NA19240.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1214-3593delA
c.1214-3593delA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78785566
chr5:78785666 T
T
 C
C
 5 a0001c0001t0008g0040
a0001c0001t0008g0223
a0001c0001t0008g0286
others(2): Show 
a0001c0001t0008g0040
a0001c0001t0008g0223
a0001c0001t0008g0286
a0001c0001t0008g0297
a0002c0002t0012g0228
 5 HG00280.hp1
HG02056.hp1
NA18942.hp1
others(2): Show 
HG00280.hp1
HG02056.hp1
NA18942.hp1
NA19010.hp2
NA19068.hp1
 intron_variant MODIFIER c.1214-3692A>G
c.1214-3692A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78785666
chr5:78785925 C
C
 T
T
 1 a0003c0004t0011g0007
a0003c0004t0011g0007
 1 NA18960.hp1
NA18960.hp1
 intron_variant MODIFIER c.1214-3951G>A
c.1214-3951G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78785925
chr5:78785976 T
T
 C
C
 19 a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
others(16): Show 
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0022t0006g0359
a0002c0013t0017g0015
 19 HG01167.hp1
HG01496.hp1
HG01884.hp1
others(16): Show 
HG01167.hp1
HG01496.hp1
HG01884.hp1
HG01891.hp2
HG02055.hp1
HG02451.hp1
HG02559.hp2
HG02622.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp2
NA19240.hp1
NA19240.hp2
 intron_variant MODIFIER c.1214-4002A>G
c.1214-4002A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78785976
chr5:78786039 T
T
 C
C
 96 a0001c0001t0003g0021
a0001c0001t0003g0159
a0001c0001t0004g0009
others(93): Show 
a0001c0001t0003g0021
a0001c0001t0003g0159
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0009g0226
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0065g0017
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0009g0281
a0001c0003t0016g0258
a0001c0003t0022g0178
a0001c0003t0025g0341
a0001c0003t0028g0051
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0017t0002g0088
a0001c0019t0022g0233
a0001c0022t0006g0359
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0006g0014
a0002c0002t0006g0191
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0062g0133
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0024g0061
a0004c0006t0024g0175
 97 HG00544.hp2
HG00738.hp2
HG01070.hp1
others(94): Show 
HG00544.hp2
HG00738.hp2
HG01070.hp1
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01358.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02080.hp1
HG02145.hp1
HG02293.hp2
HG02451.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03710.hp2
HG03834.hp2
HG03942.hp2
HG04184.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18951.hp2
NA18954.hp2
NA18959.hp2
NA18972.hp1
NA18975.hp2
NA18983.hp2
NA18988.hp2
NA18993.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19066.hp2
NA19074.hp2
NA19084.hp2
NA19240.hp1
NA19240.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1214-4065A>G
c.1214-4065A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78786039
chr5:78786093 T
T
 C
C
 13 a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
others(10): Show 
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0077g0070
a0002c0013t0017g0015
 13 HG01167.hp1
HG01496.hp1
HG01884.hp1
others(10): Show 
HG01167.hp1
HG01496.hp1
HG01884.hp1
HG02055.hp1
HG02451.hp1
HG02622.hp1
HG02922.hp1
HG02976.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19240.hp2
 intron_variant MODIFIER c.1214-4119A>G
c.1214-4119A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78786093
chr5:78786098 G
G
 T
T
 47 a0001c0001t0003g0021
a0001c0001t0004g0009
a0001c0001t0004g0020
others(44): Show 
a0001c0001t0003g0021
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0083
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0009g0226
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0065g0017
a0001c0003t0006g0103
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0009g0281
a0001c0003t0022g0178
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0003t0073g0099
a0002c0002t0003g0068
a0002c0002t0004g0079
a0002c0002t0006g0014
a0002c0002t0006g0191
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0023g0162
a0002c0002t0052g0098
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0023g0148
a0003c0004t0023g0151
a0004c0006t0004g0188
a0004c0006t0004g0215
 48 HG00544.hp2
HG00738.hp2
HG01070.hp1
others(45): Show 
HG00544.hp2
HG00738.hp2
HG01070.hp1
HG01257.hp2
HG01258.hp2
HG01358.hp1
HG01496.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02040.hp2
HG02071.hp2
HG02080.hp1
HG02145.hp1
HG02293.hp2
HG02523.hp2
HG02615.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03098.hp2
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp2
HG04184.hp1
NA18906.hp1
NA18944.hp1
NA18954.hp2
NA18972.hp1
NA18975.hp2
NA18983.hp2
NA18988.hp2
NA18993.hp1
NA19002.hp2
NA19003.hp2
NA19011.hp1
NA19066.hp2
NA19074.hp2
NA19084.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1214-4124C>A
c.1214-4124C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78786098
chr5:78786129 G
G
 A
A
 3 a0001c0003t0002g0082
a0001c0003t0002g0270
a0001c0003t0018g0260
a0001c0003t0002g0082
a0001c0003t0002g0270
a0001c0003t0018g0260
 3 HG01243.hp2
HG02109.hp1
HG02818.hp2
HG01243.hp2
HG02109.hp1
HG02818.hp2
 intron_variant MODIFIER c.1214-4155C>T
c.1214-4155C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78786129
chr5:78786317 C
C
 T
T
 338 a0001c0001t0001g0024
a0001c0001t0001g0031
a0001c0001t0001g0035
others(335): Show 
a0001c0001t0001g0024
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0008g0030
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 339 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(336): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1214-4343G>A
c.1214-4343G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78786317
chr5:78786392 A
A
 C
C
 1 a0002c0002t0006g0206
a0002c0002t0006g0206
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.1214-4418T>G
c.1214-4418T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78786392
chr5:78786583 G
G
 A
A
 3 a0001c0007t0068g0111
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0007t0068g0111
a0001c0009t0016g0271
a0001c0009t0016g0272
 3 HG01891.hp2
HG02976.hp2
NA19240.hp1
HG01891.hp2
HG02976.hp2
NA19240.hp1
 intron_variant MODIFIER c.1214-4609C>T
c.1214-4609C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78786583
chr5:78786712 T
T
 C
C
 1 a0001c0003t0070g0251
a0001c0003t0070g0251
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.1214-4738A>G
c.1214-4738A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78786712
chr5:78786719 A
A
 G
G
 3 a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
 3 HG01433.hp1
HG01993.hp1
NA18952.hp1
HG01433.hp1
HG01993.hp1
NA18952.hp1
 intron_variant MODIFIER c.1214-4745T>C
c.1214-4745T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78786719
chr5:78786862 C
C
 T
T
 1 a0001c0001t0005g0171
a0001c0001t0005g0171
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.1214-4888G>A
c.1214-4888G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78786862
chr5:78786908 A
A
 G
G
 1 a0001c0001t0008g0030
a0001c0001t0008g0030
 1 NA19009.hp2
NA19009.hp2
 intron_variant MODIFIER c.1214-4934T>C
c.1214-4934T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78786908
chr5:78786938 T
T
 G
G
 1 a0002c0002t0011g0230
a0002c0002t0011g0230
 1 HG02132.hp2
HG02132.hp2
 intron_variant MODIFIER c.1214-4964A>C
c.1214-4964A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78786938
chr5:78787091 C
C
 CATCT
CATCT
 191 a0001c0001t0001g0027
a0001c0001t0001g0062
a0001c0001t0001g0084
others(188): Show 
a0001c0001t0001g0027
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0168
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0009
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0113
a0001c0001t0008g0223
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0065g0017
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0022g0229
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0073g0099
a0001c0005t0017g0010
a0001c0005t0017g0353
a0001c0005t0074g0073
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0018t0002g0016
a0002c0002t0001g0054
a0002c0002t0001g0184
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0345
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0042
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0204
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0008g0311
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0240
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0296
a0002c0002t0019g0248
a0002c0002t0023g0162
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0033g0217
a0002c0002t0045g0302
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0175
a0006c0020t0003g0127
 192 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(189): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01109.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp2
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02080.hp1
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03654.hp1
HG03834.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18941.hp2
NA18942.hp1
NA18944.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp2
NA19002.hp2
NA19003.hp2
NA19004.hp2
NA19009.hp2
NA19010.hp2
NA19030.hp2
NA19043.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1214-5121_1214-511
others(8): Show 
c.1214-5121_1214-5118dupAGAT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78787091
chr5:78787091 C
C
 CATCTATC
others(1): Show 
CATCTATCT
 55 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0245
others(52): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0245
a0001c0001t0001g0305
a0001c0001t0001g0335
a0001c0001t0002g0145
a0001c0001t0002g0277
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0007g0181
a0001c0001t0007g0333
a0001c0001t0008g0131
a0001c0001t0010g0107
a0001c0001t0010g0264
a0001c0001t0013g0170
a0001c0001t0020g0028
a0001c0001t0051g0239
a0001c0003t0001g0326
a0001c0003t0002g0078
a0001c0003t0002g0253
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0342
a0001c0003t0002g0354
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0012g0089
a0001c0003t0015g0346
a0001c0003t0025g0341
a0001c0003t0034g0071
a0001c0005t0013g0004
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0231
a0002c0002t0001g0299
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0314
a0002c0002t0005g0192
a0002c0002t0006g0205
a0002c0002t0009g0066
a0002c0002t0009g0136
a0002c0002t0015g0207
a0002c0002t0025g0213
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0038g0006
a0002c0002t0050g0008
a0003c0004t0001g0154
a0003c0004t0002g0128
a0003c0004t0003g0095
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0029g0108
a0005c0016t0002g0237
 55 HG00099.hp1
HG00408.hp1
HG00733.hp2
others(52): Show 
HG00099.hp1
HG00408.hp1
HG00733.hp2
HG01167.hp2
HG01361.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01981.hp2
HG02027.hp1
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02129.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02602.hp1
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG03017.hp2
HG03139.hp1
HG03453.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03710.hp1
HG03927.hp2
HG03942.hp1
HG04199.hp2
NA18949.hp1
NA18951.hp1
NA18952.hp1
NA18959.hp1
NA18960.hp1
NA18960.hp2
NA18963.hp2
NA18969.hp2
NA18984.hp2
NA18988.hp1
NA18992.hp1
NA18995.hp1
NA19004.hp1
NA19009.hp1
NA19068.hp2
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.1214-5125_1214-511
others(12): Show 
c.1214-5125_1214-5118dupAGATAGAT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78787091
chr5:78787091 C
C
 CATCTATC
others(5): Show 
CATCTATCTATCT
 22 a0001c0001t0001g0031
a0001c0001t0001g0134
a0001c0001t0001g0135
others(19): Show 
a0001c0001t0001g0031
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0263
a0001c0001t0002g0218
a0001c0001t0004g0020
a0001c0001t0005g0038
a0001c0001t0014g0189
a0001c0001t0021g0173
a0001c0001t0021g0347
a0001c0001t0047g0043
a0001c0003t0002g0082
a0001c0003t0002g0262
a0001c0019t0022g0233
a0001c0021t0003g0358
a0002c0002t0001g0185
a0002c0002t0007g0081
a0002c0002t0019g0052
a0002c0002t0019g0303
a0003c0004t0007g0152
 22 HG00140.hp2
HG00558.hp2
HG01978.hp1
others(19): Show 
HG00140.hp2
HG00558.hp2
HG01978.hp1
HG02109.hp1
HG02451.hp2
HG02523.hp1
HG02738.hp1
HG02886.hp2
HG03130.hp1
HG03492.hp2
HG03579.hp2
HG04115.hp2
HG04199.hp1
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18949.hp2
NA18952.hp2
NA18963.hp1
NA18983.hp1
NA18984.hp1
NA19011.hp1
 intron_variant MODIFIER c.1214-5129_1214-511
others(16): Show 
c.1214-5129_1214-5118dupAGATAGATAGAT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78787091
chr5:78787091 C
C
 CATCTATC
others(9): Show 
CATCTATCTATCTATCT
 13 a0001c0001t0002g0261
a0001c0001t0003g0214
a0001c0001t0005g0208
others(10): Show 
a0001c0001t0002g0261
a0001c0001t0003g0214
a0001c0001t0005g0208
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0005t0017g0255
a0002c0002t0001g0069
a0002c0002t0002g0055
a0002c0002t0007g0313
a0002c0002t0055g0094
a0002c0002t0064g0285
a0002c0002t0066g0355
a0003c0004t0002g0243
 13 HG00673.hp2
HG00741.hp2
HG01192.hp2
others(10): Show 
HG00673.hp2
HG00741.hp2
HG01192.hp2
HG01975.hp1
HG02155.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG03654.hp2
HG03669.hp2
NA18970.hp1
NA18993.hp2
NA19002.hp1
 intron_variant MODIFIER c.1214-5133_1214-511
others(20): Show 
c.1214-5133_1214-5118dupAGATAGATAGATAGAT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78787091
chr5:78787091 C
C
 CATCTATC
others(13): Show 
CATCTATCTATCTATCTATCT
 1 a0002c0002t0007g0044
a0002c0002t0007g0044
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.1214-5137_1214-511
others(24): Show 
c.1214-5137_1214-5118dupAGATAGATAGATAGATAGAT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78787091
chr5:78787091 C
C
 T
T
 1 a0001c0001t0003g0032
a0001c0001t0003g0032
 1 NA18970.hp2
NA18970.hp2
 intron_variant MODIFIER c.1214-5117G>A
c.1214-5117G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78787091
chr5:78787135 T
T
 TATCTATC
others(8): Show 
TATCTATCTATCTATC
 1 a0002c0002t0018g0308
a0002c0002t0018g0308
 1 NA18961.hp2
NA18961.hp2
 intron_variant MODIFIER c.1214-5162_1214-516
others(19): Show 
c.1214-5162_1214-5161insGATAGATAGATAGAT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78787135
chr5:78787138 A
A
 C
C
 29 a0001c0001t0002g0005
a0001c0001t0002g0277
a0001c0001t0007g0115
others(26): Show 
a0001c0001t0002g0005
a0001c0001t0002g0277
a0001c0001t0007g0115
a0001c0001t0008g0279
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0002g0074
a0001c0003t0002g0253
a0001c0003t0002g0269
a0001c0003t0006g0212
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0089
a0001c0003t0012g0232
a0002c0002t0002g0295
a0002c0002t0006g0126
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0033g0217
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0033g0282
a0003c0004t0072g0323
a0004c0006t0016g0163
a0004c0006t0016g0221
a0007c0012t0032g0180
 29 HG00323.hp1
HG00733.hp2
HG00741.hp1
others(26): Show 
HG00323.hp1
HG00733.hp2
HG00741.hp1
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp2
HG01517.hp1
HG02109.hp2
HG02145.hp2
HG02258.hp2
HG02280.hp2
HG02647.hp2
HG02735.hp1
HG02809.hp1
HG02896.hp2
HG02897.hp2
HG03041.hp1
HG03453.hp2
HG03471.hp1
HG04115.hp1
NA18986.hp1
NA18994.hp2
NA19030.hp1
NA20129.hp1
NA20300.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1214-5164T>G
c.1214-5164T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78787138
chr5:78787176 T
T
 A
A
 94 a0001c0001t0003g0021
a0001c0001t0003g0159
a0001c0001t0004g0009
others(91): Show 
a0001c0001t0003g0021
a0001c0001t0003g0159
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0009g0226
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0065g0017
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0009g0281
a0001c0003t0016g0258
a0001c0003t0022g0178
a0001c0003t0025g0341
a0001c0003t0028g0051
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0017t0002g0088
a0001c0019t0022g0233
a0001c0022t0006g0359
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0004g0079
a0002c0002t0006g0014
a0002c0002t0006g0191
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0062g0133
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0024g0061
a0004c0006t0024g0175
 95 HG00544.hp2
HG00738.hp2
HG01070.hp1
others(92): Show 
HG00544.hp2
HG00738.hp2
HG01070.hp1
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01358.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02080.hp1
HG02145.hp1
HG02293.hp2
HG02451.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03710.hp2
HG03834.hp2
HG03942.hp2
HG04184.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18954.hp2
NA18959.hp2
NA18972.hp1
NA18975.hp2
NA18983.hp2
NA18988.hp2
NA18993.hp1
NA19002.hp2
NA19003.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19066.hp2
NA19074.hp2
NA19084.hp2
NA19240.hp1
NA19240.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1214-5202A>T
c.1214-5202A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78787176
chr5:78787318 G
G
 A
A
 1 a0002c0002t0064g0285
a0002c0002t0064g0285
 1 HG01192.hp2
HG01192.hp2
 intron_variant MODIFIER c.1214-5344C>T
c.1214-5344C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78787318
chr5:78787322 G
G
 C
C
 7 a0001c0001t0003g0021
a0001c0001t0065g0017
a0001c0003t0009g0281
others(4): Show 
a0001c0001t0003g0021
a0001c0001t0065g0017
a0001c0003t0009g0281
a0002c0002t0023g0162
a0002c0011t0053g0002
a0003c0004t0023g0148
a0003c0004t0023g0151
 7 HG00738.hp2
HG01070.hp1
HG02040.hp2
others(4): Show 
HG00738.hp2
HG01070.hp1
HG02040.hp2
HG04184.hp1
NA18972.hp1
NA19066.hp2
NA20805.hp1
 intron_variant MODIFIER c.1214-5348C>G
c.1214-5348C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78787322
chr5:78787366 C
C
 T
T
 19 a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
others(16): Show 
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0022t0006g0359
a0002c0013t0017g0015
 19 HG01167.hp1
HG01496.hp1
HG01884.hp1
others(16): Show 
HG01167.hp1
HG01496.hp1
HG01884.hp1
HG01891.hp2
HG02055.hp1
HG02451.hp1
HG02559.hp2
HG02622.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp2
NA19240.hp1
NA19240.hp2
 intron_variant MODIFIER c.1214-5392G>A
c.1214-5392G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78787366
chr5:78787375 TG
TG
 T
T
 16 a0001c0001t0004g0058
a0001c0001t0004g0278
a0001c0001t0024g0182
others(13): Show 
a0001c0001t0004g0058
a0001c0001t0004g0278
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0003t0025g0341
a0001c0003t0031g0119
a0001c0003t0056g0022
a0002c0002t0003g0129
a0002c0002t0025g0213
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0003c0004t0062g0133
a0004c0006t0024g0061
a0004c0006t0024g0175
 16 HG01109.hp1
HG01167.hp2
HG01175.hp2
others(13): Show 
HG01109.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01258.hp1
HG01361.hp2
HG02027.hp1
HG02602.hp2
HG02622.hp2
HG02683.hp1
HG03098.hp1
HG03130.hp2
HG03486.hp1
HG03942.hp2
NA18959.hp2
NA20805.hp2
 intron_variant MODIFIER c.1214-5402delC
c.1214-5402delC
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78787375
chr5:78787427 C
C
 A
A
 1 a0001c0007t0077g0070
a0001c0007t0077g0070
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.1214-5453G>T
c.1214-5453G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78787427
chr5:78787438 G
G
 A
A
 17 a0001c0001t0003g0159
a0001c0001t0004g0058
a0001c0001t0004g0278
others(14): Show 
a0001c0001t0003g0159
a0001c0001t0004g0058
a0001c0001t0004g0278
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0003t0025g0341
a0001c0003t0031g0119
a0001c0003t0056g0022
a0002c0002t0003g0129
a0002c0002t0025g0213
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0003c0004t0062g0133
a0004c0006t0024g0061
a0004c0006t0024g0175
 17 HG01109.hp1
HG01167.hp2
HG01175.hp2
others(14): Show 
HG01109.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01258.hp1
HG01361.hp2
HG02027.hp1
HG02602.hp2
HG02622.hp2
HG02683.hp1
HG03098.hp1
HG03130.hp2
HG03486.hp1
HG03942.hp2
NA18959.hp2
NA19030.hp2
NA20805.hp2
 intron_variant MODIFIER c.1214-5464C>T
c.1214-5464C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78787438
chr5:78787473 G
G
 T
T
 77 a0001c0001t0003g0021
a0001c0001t0004g0009
a0001c0001t0004g0020
others(74): Show 
a0001c0001t0003g0021
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0083
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0009g0226
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0034g0072
a0001c0001t0065g0017
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0009g0281
a0001c0003t0016g0258
a0001c0003t0022g0178
a0001c0003t0028g0051
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0017t0002g0088
a0001c0019t0022g0233
a0001c0022t0006g0359
a0002c0002t0003g0068
a0002c0002t0004g0079
a0002c0002t0006g0014
a0002c0002t0006g0191
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0023g0162
a0002c0002t0052g0098
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0023g0148
a0003c0004t0023g0151
a0004c0006t0004g0188
a0004c0006t0004g0215
 78 HG00544.hp2
HG00738.hp2
HG01070.hp1
others(75): Show 
HG00544.hp2
HG00738.hp2
HG01070.hp1
HG01167.hp1
HG01257.hp2
HG01258.hp2
HG01358.hp1
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02080.hp1
HG02145.hp1
HG02293.hp2
HG02451.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03710.hp2
HG03834.hp2
HG04184.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18954.hp2
NA18972.hp1
NA18975.hp2
NA18983.hp2
NA18988.hp2
NA18993.hp1
NA19002.hp2
NA19003.hp2
NA19011.hp1
NA19043.hp2
NA19066.hp2
NA19074.hp2
NA19084.hp2
NA19240.hp1
NA19240.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1214-5499C>A
c.1214-5499C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78787473
chr5:78787584 G
G
 C
C
 1 a0002c0002t0019g0303
a0002c0002t0019g0303
 1 NA18949.hp2
NA18949.hp2
 intron_variant MODIFIER c.1214-5610C>G
c.1214-5610C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78787584
chr5:78787723 C
C
 T
T
 1 a0001c0001t0020g0028
a0001c0001t0020g0028
 1 NA19009.hp1
NA19009.hp1
 intron_variant MODIFIER c.1214-5749G>A
c.1214-5749G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78787723
chr5:78787876 G
G
 A
A
 5 a0001c0001t0002g0218
a0001c0001t0018g0130
a0001c0003t0002g0262
others(2): Show 
a0001c0001t0002g0218
a0001c0001t0018g0130
a0001c0003t0002g0262
a0001c0003t0018g0057
a0003c0004t0007g0152
 5 HG02451.hp2
HG02886.hp2
HG03041.hp2
others(2): Show 
HG02451.hp2
HG02886.hp2
HG03041.hp2
HG03579.hp2
NA20129.hp2
 intron_variant MODIFIER c.1214-5902C>T
c.1214-5902C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78787876
chr5:78788120 G
G
 A
A
 28 a0001c0001t0004g0020
a0001c0001t0004g0083
a0001c0001t0004g0328
others(25): Show 
a0001c0001t0004g0020
a0001c0001t0004g0083
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0009g0226
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0003t0012g0089
a0001c0003t0012g0232
a0001c0003t0060g0210
a0002c0002t0003g0068
a0002c0002t0004g0079
a0002c0002t0006g0191
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0003c0004t0001g0001
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0004c0006t0004g0188
a0004c0006t0004g0215
 29 HG00544.hp2
HG01257.hp2
HG01258.hp2
others(26): Show 
HG00544.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp1
HG01496.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02071.hp2
HG02080.hp1
HG02258.hp2
HG02293.hp2
HG02523.hp2
HG03017.hp1
HG03669.hp1
HG03710.hp2
HG03834.hp2
NA18944.hp1
NA18954.hp2
NA18975.hp2
NA18983.hp2
NA18988.hp2
NA18993.hp1
NA19002.hp2
NA19003.hp2
NA19011.hp1
NA19074.hp2
NA19084.hp2
NA20300.hp1
 intron_variant MODIFIER c.1214-6146C>T
c.1214-6146C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78788120
chr5:78788228 A
A
 G
G
 17 a0001c0001t0003g0159
a0001c0001t0004g0058
a0001c0001t0004g0278
others(14): Show 
a0001c0001t0003g0159
a0001c0001t0004g0058
a0001c0001t0004g0278
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0003t0025g0341
a0001c0003t0031g0119
a0001c0003t0056g0022
a0002c0002t0003g0129
a0002c0002t0025g0213
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0003c0004t0062g0133
a0004c0006t0024g0061
a0004c0006t0024g0175
 17 HG01109.hp1
HG01167.hp2
HG01175.hp2
others(14): Show 
HG01109.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01258.hp1
HG01361.hp2
HG02027.hp1
HG02602.hp2
HG02622.hp2
HG02683.hp1
HG03098.hp1
HG03130.hp2
HG03486.hp1
HG03942.hp2
NA18959.hp2
NA19030.hp2
NA20805.hp2
 intron_variant MODIFIER c.1214-6254T>C
c.1214-6254T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78788228
chr5:78788290 G
G
 C
C
 1 a0001c0001t0004g0058
a0001c0001t0004g0058
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1214-6316C>G
c.1214-6316C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78788290
chr5:78788298 G
G
 A
A
 6 a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0007t0068g0111
others(3): Show 
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0007t0068g0111
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0022t0006g0359
 6 HG01891.hp2
HG02559.hp2
HG02965.hp1
others(3): Show 
HG01891.hp2
HG02559.hp2
HG02965.hp1
HG02976.hp2
NA19043.hp2
NA19240.hp1
 intron_variant MODIFIER c.1214-6324C>T
c.1214-6324C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78788298
chr5:78788316 C
C
 T
T
 1 a0001c0001t0002g0145
a0001c0001t0002g0145
 1 NA18995.hp1
NA18995.hp1
 intron_variant MODIFIER c.1214-6342G>A
c.1214-6342G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78788316
chr5:78788462 G
G
 A
A
 6 a0001c0003t0002g0013
a0001c0003t0002g0276
a0001c0003t0002g0349
others(3): Show 
a0001c0003t0002g0013
a0001c0003t0002g0276
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0027g0114
a0001c0015t0027g0102
 6 HG00733.hp1
HG01168.hp2
HG02055.hp2
others(3): Show 
HG00733.hp1
HG01168.hp2
HG02055.hp2
HG02559.hp1
HG02572.hp2
HG03195.hp2
 intron_variant MODIFIER c.1214-6488C>T
c.1214-6488C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78788462
chr5:78788548 C
C
 T
T
 1 a0002c0002t0001g0287
a0002c0002t0001g0287
 1 NA18975.hp1
NA18975.hp1
 intron_variant MODIFIER c.1214-6574G>A
c.1214-6574G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78788548
chr5:78788758 A
A
 G
G
 96 a0001c0001t0003g0021
a0001c0001t0003g0159
a0001c0001t0004g0009
others(93): Show 
a0001c0001t0003g0021
a0001c0001t0003g0159
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0009g0226
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0065g0017
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0009g0281
a0001c0003t0016g0258
a0001c0003t0022g0178
a0001c0003t0025g0341
a0001c0003t0028g0051
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0017t0002g0088
a0001c0019t0022g0233
a0001c0022t0006g0359
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0006g0014
a0002c0002t0006g0191
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0062g0133
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0024g0061
a0004c0006t0024g0175
 97 HG00544.hp2
HG00738.hp2
HG01070.hp1
others(94): Show 
HG00544.hp2
HG00738.hp2
HG01070.hp1
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01358.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02080.hp1
HG02145.hp1
HG02293.hp2
HG02451.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03710.hp2
HG03834.hp2
HG03942.hp2
HG04184.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18951.hp2
NA18954.hp2
NA18959.hp2
NA18972.hp1
NA18975.hp2
NA18983.hp2
NA18988.hp2
NA18993.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19066.hp2
NA19074.hp2
NA19084.hp2
NA19240.hp1
NA19240.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1214-6784T>C
c.1214-6784T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78788758
chr5:78788771 T
T
 A
A
 95 a0001c0001t0003g0021
a0001c0001t0004g0009
a0001c0001t0004g0020
others(92): Show 
a0001c0001t0003g0021
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0009g0226
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0065g0017
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0009g0281
a0001c0003t0016g0258
a0001c0003t0022g0178
a0001c0003t0025g0341
a0001c0003t0028g0051
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0017t0002g0088
a0001c0019t0022g0233
a0001c0022t0006g0359
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0006g0014
a0002c0002t0006g0191
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0062g0133
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0024g0061
a0004c0006t0024g0175
 96 HG00544.hp2
HG00738.hp2
HG01070.hp1
others(93): Show 
HG00544.hp2
HG00738.hp2
HG01070.hp1
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01358.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02080.hp1
HG02145.hp1
HG02293.hp2
HG02451.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03710.hp2
HG03834.hp2
HG03942.hp2
HG04184.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18951.hp2
NA18954.hp2
NA18959.hp2
NA18972.hp1
NA18975.hp2
NA18983.hp2
NA18988.hp2
NA18993.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19011.hp1
NA19043.hp2
NA19066.hp2
NA19074.hp2
NA19084.hp2
NA19240.hp1
NA19240.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1214-6797A>T
c.1214-6797A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78788771
chr5:78788832 C
C
 T
T
 15 a0001c0001t0004g0058
a0001c0001t0024g0182
a0001c0001t0025g0316
others(12): Show 
a0001c0001t0004g0058
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0003t0025g0341
a0001c0003t0031g0119
a0001c0003t0056g0022
a0002c0002t0003g0129
a0002c0002t0025g0213
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0003c0004t0062g0133
a0004c0006t0024g0061
a0004c0006t0024g0175
 15 HG01109.hp1
HG01167.hp2
HG01175.hp2
others(12): Show 
HG01109.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01258.hp1
HG01361.hp2
HG02027.hp1
HG02602.hp2
HG02683.hp1
HG03098.hp1
HG03130.hp2
HG03486.hp1
HG03942.hp2
NA18959.hp2
NA20805.hp2
 intron_variant MODIFIER c.1214-6858G>A
c.1214-6858G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78788832
chr5:78789112 A
A
 C
C
 6 a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0007t0068g0111
others(3): Show 
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0007t0068g0111
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0022t0006g0359
 6 HG01891.hp2
HG02559.hp2
HG02965.hp1
others(3): Show 
HG01891.hp2
HG02559.hp2
HG02965.hp1
HG02976.hp2
NA19043.hp2
NA19240.hp1
 intron_variant MODIFIER c.1214-7138T>G
c.1214-7138T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78789112
chr5:78789505 A
A
 C
C
 13 a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
others(10): Show 
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0077g0070
a0002c0013t0017g0015
 13 HG01167.hp1
HG01496.hp1
HG01884.hp1
others(10): Show 
HG01167.hp1
HG01496.hp1
HG01884.hp1
HG02055.hp1
HG02451.hp1
HG02622.hp1
HG02922.hp1
HG02976.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19240.hp2
 intron_variant MODIFIER c.1214-7531T>G
c.1214-7531T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78789505
chr5:78789534 C
C
 T
T
 1 a0007c0012t0032g0180
a0007c0012t0032g0180
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.1214-7560G>A
c.1214-7560G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78789534
chr5:78789659 G
G
 A
A
 1 a0002c0002t0002g0056
a0002c0002t0002g0056
 1 NA18984.hp2
NA18984.hp2
 intron_variant MODIFIER c.1214-7685C>T
c.1214-7685C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78789659
chr5:78789721 A
A
 G
G
 6 a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0007t0068g0111
others(3): Show 
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0007t0068g0111
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0022t0006g0359
 6 HG01891.hp2
HG02559.hp2
HG02965.hp1
others(3): Show 
HG01891.hp2
HG02559.hp2
HG02965.hp1
HG02976.hp2
NA19043.hp2
NA19240.hp1
 intron_variant MODIFIER c.1214-7747T>C
c.1214-7747T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78789721
chr5:78789860 A
A
 T
T
 1 a0001c0001t0040g0288
a0001c0001t0040g0288
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.1214-7886T>A
c.1214-7886T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78789860
chr5:78790080 A
A
 G
G
 2 a0002c0002t0002g0179
a0002c0002t0005g0241
a0002c0002t0002g0179
a0002c0002t0005g0241
 2 HG00544.hp1
NA19065.hp1
HG00544.hp1
NA19065.hp1
 intron_variant MODIFIER c.1214-8106T>C
c.1214-8106T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78790080
chr5:78790081 T
T
 G
G
 6 a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0007t0068g0111
others(3): Show 
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0007t0068g0111
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0022t0006g0359
 6 HG01891.hp2
HG02559.hp2
HG02965.hp1
others(3): Show 
HG01891.hp2
HG02559.hp2
HG02965.hp1
HG02976.hp2
NA19043.hp2
NA19240.hp1
 intron_variant MODIFIER c.1214-8107A>C
c.1214-8107A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78790081
chr5:78790194 C
C
 A
A
 2 a0001c0005t0013g0004
a0001c0007t0004g0100
a0001c0005t0013g0004
a0001c0007t0004g0100
 2 HG03540.hp2
NA19240.hp2
HG03540.hp2
NA19240.hp2
 intron_variant MODIFIER c.1214-8220G>T
c.1214-8220G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78790194
chr5:78790202 C
C
 T
T
 1 a0002c0002t0006g0206
a0002c0002t0006g0206
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.1214-8228G>A
c.1214-8228G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78790202
chr5:78790534 C
C
 G
G
 3 a0001c0003t0002g0160
a0001c0003t0002g0342
a0002c0002t0002g0186
a0001c0003t0002g0160
a0001c0003t0002g0342
a0002c0002t0002g0186
 3 HG00642.hp2
HG01981.hp1
NA20752.hp2
HG00642.hp2
HG01981.hp1
NA20752.hp2
 intron_variant MODIFIER c.1214-8560G>C
c.1214-8560G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78790534
chr5:78790550 A
A
 T
T
 1 a0002c0002t0001g0183
a0002c0002t0001g0183
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.1214-8576T>A
c.1214-8576T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78790550
chr5:78790712 T
T
 C
C
 12 a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
others(9): Show 
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0003t0025g0341
a0001c0003t0056g0022
a0002c0002t0003g0129
a0002c0002t0025g0213
a0002c0002t0057g0284
a0002c0002t0064g0285
a0003c0004t0062g0133
a0004c0006t0024g0061
a0004c0006t0024g0175
 12 HG01167.hp2
HG01175.hp2
HG01192.hp2
others(9): Show 
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01258.hp1
HG01361.hp2
HG02027.hp1
HG02602.hp2
HG02683.hp1
HG03130.hp2
HG03942.hp2
NA18959.hp2
NA20805.hp2
 intron_variant MODIFIER c.1214-8738A>G
c.1214-8738A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78790712
chr5:78790713 C
C
 T
T
 29 a0001c0001t0002g0277
a0001c0001t0004g0058
a0001c0001t0034g0072
others(26): Show 
a0001c0001t0002g0277
a0001c0001t0004g0058
a0001c0001t0034g0072
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0016g0258
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0069g0273
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0017t0002g0088
a0001c0019t0022g0233
a0001c0022t0006g0359
a0002c0013t0017g0015
a0003c0004t0012g0123
a0003c0004t0014g0164
 29 HG01167.hp1
HG01433.hp2
HG01496.hp1
others(26): Show 
HG01167.hp1
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01891.hp2
HG01993.hp2
HG02055.hp1
HG02451.hp1
HG02572.hp1
HG02615.hp1
HG02622.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03453.hp2
HG03486.hp1
NA18906.hp2
NA19043.hp2
NA19240.hp1
 intron_variant MODIFIER c.1214-8739G>A
c.1214-8739G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78790713
chr5:78790788 A
A
 G
G
 1 a0002c0002t0030g0037
a0002c0002t0030g0037
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.1214-8814T>C
c.1214-8814T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78790788
chr5:78790794 C
C
 T
T
 3 a0001c0001t0003g0093
a0001c0001t0003g0214
a0001c0021t0003g0358
a0001c0001t0003g0093
a0001c0001t0003g0214
a0001c0021t0003g0358
 3 HG02698.hp2
HG02738.hp1
HG04199.hp2
HG02698.hp2
HG02738.hp1
HG04199.hp2
 intron_variant MODIFIER c.1214-8820G>A
c.1214-8820G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78790794
chr5:78790873 G
G
 T
T
 1 a0001c0005t0035g0165
a0001c0005t0035g0165
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.1214-8899C>A
c.1214-8899C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78790873
chr5:78790886 C
C
 T
T
 1 a0001c0001t0007g0333
a0001c0001t0007g0333
 1 HG01943.hp2
HG01943.hp2
 intron_variant MODIFIER c.1214-8912G>A
c.1214-8912G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78790886
chr5:78791032 T
T
 C
C
 8 a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0003t0006g0103
others(5): Show 
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0003t0006g0103
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0070g0251
a0001c0003t0073g0099
a0002c0002t0006g0014
 8 HG02145.hp1
HG02615.hp2
HG02896.hp1
others(5): Show 
HG02145.hp1
HG02615.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG03098.hp2
HG03516.hp2
NA21309.hp2
 intron_variant MODIFIER c.1214-9058A>G
c.1214-9058A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78791032
chr5:78791076 C
C
 T
T
 1 a0001c0003t0006g0254
a0001c0003t0006g0254
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.1214-9102G>A
c.1214-9102G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78791076
chr5:78791310 A
A
 T
T
 10 a0001c0001t0002g0277
a0001c0005t0017g0003
a0001c0005t0017g0010
others(7): Show 
a0001c0001t0002g0277
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0007t0077g0070
a0002c0013t0017g0015
a0003c0004t0049g0139
 10 HG01167.hp1
HG01496.hp1
HG01884.hp1
others(7): Show 
HG01167.hp1
HG01496.hp1
HG01884.hp1
HG02055.hp1
HG02451.hp1
HG02622.hp1
HG02965.hp1
HG03453.hp2
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.1214-9336T>A
c.1214-9336T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78791310
chr5:78791376 C
C
 T
T
 1 a0002c0002t0013g0216
a0002c0002t0013g0216
 1 HG01168.hp1
HG01168.hp1
 intron_variant MODIFIER c.1214-9402G>A
c.1214-9402G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78791376
chr5:78791527 A
A
 G
G
 8 a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0003t0006g0103
others(5): Show 
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0003t0006g0103
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0070g0251
a0001c0003t0073g0099
a0002c0002t0006g0014
 8 HG02145.hp1
HG02615.hp2
HG02896.hp1
others(5): Show 
HG02145.hp1
HG02615.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG03098.hp2
HG03516.hp2
NA21309.hp2
 intron_variant MODIFIER c.1214-9553T>C
c.1214-9553T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78791527
chr5:78791761 C
C
 T
T
 41 a0001c0001t0001g0024
a0001c0001t0002g0277
a0001c0001t0003g0159
others(38): Show 
a0001c0001t0001g0024
a0001c0001t0002g0277
a0001c0001t0003g0159
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0011g0026
a0001c0003t0022g0178
a0001c0003t0028g0051
a0001c0003t0031g0119
a0001c0003t0048g0266
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0077g0070
a0002c0002t0004g0079
a0002c0002t0006g0191
a0002c0002t0009g0080
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0049g0139
a0004c0006t0004g0188
a0004c0006t0004g0215
 42 HG00544.hp2
HG01167.hp1
HG01257.hp2
others(39): Show 
HG00544.hp2
HG01167.hp1
HG01257.hp2
HG01258.hp2
HG01358.hp1
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02055.hp1
HG02071.hp2
HG02080.hp1
HG02293.hp2
HG02451.hp1
HG02523.hp2
HG02622.hp1
HG02622.hp2
HG02895.hp1
HG02965.hp1
HG03017.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp2
NA18906.hp1
NA18906.hp2
NA18993.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19074.hp2
NA19240.hp2
 intron_variant MODIFIER c.1214-9787G>A
c.1214-9787G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78791761
chr5:78791819 G
G
 A
A
 3 a0001c0019t0022g0233
a0003c0004t0012g0123
a0003c0004t0014g0164
a0001c0019t0022g0233
a0003c0004t0012g0123
a0003c0004t0014g0164
 3 HG01433.hp2
HG01993.hp2
HG03130.hp1
HG01433.hp2
HG01993.hp2
HG03130.hp1
 intron_variant MODIFIER c.1214-9845C>T
c.1214-9845C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78791819
chr5:78791880 T
T
 C
C
 10 a0001c0001t0002g0277
a0001c0005t0017g0003
a0001c0005t0017g0010
others(7): Show 
a0001c0001t0002g0277
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0007t0077g0070
a0002c0013t0017g0015
a0003c0004t0049g0139
 10 HG01167.hp1
HG01496.hp1
HG01884.hp1
others(7): Show 
HG01167.hp1
HG01496.hp1
HG01884.hp1
HG02055.hp1
HG02451.hp1
HG02622.hp1
HG02965.hp1
HG03453.hp2
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.1214-9906A>G
c.1214-9906A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78791880
chr5:78791933 G
G
 A
A
 1 a0001c0005t0036g0275
a0001c0005t0036g0275
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.1214-9959C>T
c.1214-9959C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78791933
chr5:78792030 T
T
 TA
TA
 11 a0001c0001t0002g0277
a0001c0001t0004g0278
a0001c0005t0017g0003
others(8): Show 
a0001c0001t0002g0277
a0001c0001t0004g0278
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0007t0077g0070
a0002c0013t0017g0015
a0003c0004t0049g0139
 11 HG01167.hp1
HG01496.hp1
HG01884.hp1
others(8): Show 
HG01167.hp1
HG01496.hp1
HG01884.hp1
HG02055.hp1
HG02451.hp1
HG02622.hp1
HG02622.hp2
HG02965.hp1
HG03453.hp2
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.1214-10057dupT
c.1214-10057dupT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78792030
chr5:78792030 TA
TA
 T
T
 12 a0001c0001t0001g0110
a0001c0001t0003g0021
a0001c0001t0065g0017
others(9): Show 
a0001c0001t0001g0110
a0001c0001t0003g0021
a0001c0001t0065g0017
a0001c0003t0009g0281
a0001c0007t0068g0111
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0022t0006g0359
a0002c0002t0023g0162
a0002c0011t0053g0002
a0003c0004t0023g0148
a0003c0004t0023g0151
 12 HG00738.hp2
HG01070.hp1
HG01891.hp2
others(9): Show 
HG00738.hp2
HG01070.hp1
HG01891.hp2
HG02040.hp2
HG02976.hp2
HG04184.hp1
NA18972.hp1
NA19043.hp2
NA19062.hp1
NA19066.hp2
NA19240.hp1
NA20805.hp1
 intron_variant MODIFIER c.1214-10057delT
c.1214-10057delT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78792030
chr5:78792077 C
C
 T
T
 10 a0001c0001t0002g0277
a0001c0005t0017g0003
a0001c0005t0017g0010
others(7): Show 
a0001c0001t0002g0277
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0007t0077g0070
a0002c0013t0017g0015
a0003c0004t0049g0139
 10 HG01167.hp1
HG01496.hp1
HG01884.hp1
others(7): Show 
HG01167.hp1
HG01496.hp1
HG01884.hp1
HG02055.hp1
HG02451.hp1
HG02622.hp1
HG02965.hp1
HG03453.hp2
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.1214-10103G>A
c.1214-10103G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78792077
chr5:78792149 C
C
 T
T
 1 a0003c0004t0014g0164
a0003c0004t0014g0164
 1 HG01993.hp2
HG01993.hp2
 intron_variant MODIFIER c.1214-10175G>A
c.1214-10175G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78792149
chr5:78792187 G
G
 T
T
 10 a0001c0001t0002g0277
a0001c0005t0017g0003
a0001c0005t0017g0010
others(7): Show 
a0001c0001t0002g0277
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0007t0077g0070
a0002c0013t0017g0015
a0003c0004t0049g0139
 10 HG01167.hp1
HG01496.hp1
HG01884.hp1
others(7): Show 
HG01167.hp1
HG01496.hp1
HG01884.hp1
HG02055.hp1
HG02451.hp1
HG02622.hp1
HG02965.hp1
HG03453.hp2
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.1214-10213C>A
c.1214-10213C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78792187
chr5:78792296 T
T
 C
C
 24 a0001c0001t0001g0024
a0001c0001t0001g0305
a0001c0001t0003g0159
others(21): Show 
a0001c0001t0001g0024
a0001c0001t0001g0305
a0001c0001t0003g0159
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0208
a0001c0001t0011g0026
a0001c0003t0031g0119
a0001c0003t0060g0210
a0002c0002t0004g0079
a0002c0002t0006g0191
a0002c0002t0009g0080
a0002c0002t0009g0193
a0002c0002t0009g0194
a0003c0004t0001g0001
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0004c0006t0004g0188
a0004c0006t0004g0215
 25 HG00544.hp2
HG01257.hp2
HG01258.hp2
others(22): Show 
HG00544.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02071.hp2
HG02080.hp1
HG02135.hp2
HG02155.hp1
HG02293.hp2
HG02523.hp2
HG03017.hp1
HG03098.hp1
HG03486.hp1
HG03669.hp1
HG03710.hp2
HG03834.hp2
NA18993.hp1
NA19011.hp1
NA19030.hp2
NA19074.hp2
 intron_variant MODIFIER c.1214-10322A>G
c.1214-10322A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78792296
chr5:78792355 G
G
 A
A
 24 a0001c0001t0001g0024
a0001c0001t0001g0305
a0001c0001t0003g0159
others(21): Show 
a0001c0001t0001g0024
a0001c0001t0001g0305
a0001c0001t0003g0159
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0208
a0001c0001t0011g0026
a0001c0003t0031g0119
a0001c0003t0060g0210
a0002c0002t0004g0079
a0002c0002t0006g0191
a0002c0002t0009g0080
a0002c0002t0009g0193
a0002c0002t0009g0194
a0003c0004t0001g0001
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0004c0006t0004g0188
a0004c0006t0004g0215
 25 HG00544.hp2
HG01257.hp2
HG01258.hp2
others(22): Show 
HG00544.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02071.hp2
HG02080.hp1
HG02135.hp2
HG02155.hp1
HG02293.hp2
HG02523.hp2
HG03017.hp1
HG03098.hp1
HG03486.hp1
HG03669.hp1
HG03710.hp2
HG03834.hp2
NA18993.hp1
NA19011.hp1
NA19030.hp2
NA19074.hp2
 intron_variant MODIFIER c.1214-10381C>T
c.1214-10381C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78792355
chr5:78792378 CA
CA
 C
C
 52 a0001c0001t0001g0024
a0001c0001t0001g0305
a0001c0001t0003g0159
others(49): Show 
a0001c0001t0001g0024
a0001c0001t0001g0305
a0001c0001t0003g0159
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0041
a0001c0001t0005g0171
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0011g0026
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0003t0022g0178
a0001c0003t0025g0341
a0001c0003t0028g0051
a0001c0003t0031g0119
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0036g0275
a0001c0007t0004g0100
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0017t0002g0088
a0002c0002t0003g0129
a0002c0002t0004g0079
a0002c0002t0006g0191
a0002c0002t0009g0080
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0025g0213
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0003c0004t0001g0001
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0062g0133
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0024g0061
a0004c0006t0024g0175
 53 HG00423.hp2
HG00438.hp2
HG00544.hp2
others(50): Show 
HG00423.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG01109.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01358.hp1
HG01361.hp2
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02027.hp1
HG02071.hp2
HG02080.hp1
HG02135.hp2
HG02155.hp1
HG02293.hp2
HG02523.hp2
HG02602.hp2
HG02615.hp1
HG02683.hp1
HG02717.hp2
HG02886.hp1
HG02895.hp1
HG03017.hp1
HG03098.hp1
HG03130.hp2
HG03225.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp2
HG03942.hp2
NA18747.hp2
NA18906.hp1
NA18959.hp2
NA18993.hp1
NA19011.hp1
NA19030.hp2
NA19074.hp2
NA19240.hp2
NA20805.hp2
 intron_variant MODIFIER c.1214-10405delT
c.1214-10405delT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78792378
chr5:78792664 G
G
 A
A
 10 a0001c0001t0002g0277
a0001c0005t0017g0003
a0001c0005t0017g0010
others(7): Show 
a0001c0001t0002g0277
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0007t0077g0070
a0002c0013t0017g0015
a0003c0004t0049g0139
 10 HG01167.hp1
HG01496.hp1
HG01884.hp1
others(7): Show 
HG01167.hp1
HG01496.hp1
HG01884.hp1
HG02055.hp1
HG02451.hp1
HG02622.hp1
HG02965.hp1
HG03453.hp2
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.1214-10690C>T
c.1214-10690C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78792664
chr5:78792823 C
C
 CA
CA
 47 a0001c0001t0001g0024
a0001c0001t0001g0305
a0001c0001t0002g0277
others(44): Show 
a0001c0001t0001g0024
a0001c0001t0001g0305
a0001c0001t0002g0277
a0001c0001t0003g0159
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0208
a0001c0001t0011g0026
a0001c0003t0022g0178
a0001c0003t0028g0051
a0001c0003t0031g0119
a0001c0003t0048g0266
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0017t0002g0088
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0006g0191
a0002c0002t0009g0080
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0049g0139
a0004c0006t0004g0188
a0004c0006t0004g0215
 48 HG00544.hp2
HG01167.hp1
HG01257.hp2
others(45): Show 
HG00544.hp2
HG01167.hp1
HG01257.hp2
HG01258.hp2
HG01358.hp1
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02055.hp1
HG02071.hp2
HG02080.hp1
HG02135.hp2
HG02155.hp1
HG02293.hp2
HG02451.hp1
HG02523.hp2
HG02615.hp1
HG02622.hp1
HG02717.hp2
HG02886.hp1
HG02895.hp1
HG02965.hp1
HG03017.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp2
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18993.hp1
NA19001.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19074.hp2
NA19240.hp2
 intron_variant MODIFIER c.1214-10850dupT
c.1214-10850dupT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78792823
chr5:78792892 G
G
 A
A
 10 a0001c0001t0002g0277
a0001c0005t0017g0003
a0001c0005t0017g0010
others(7): Show 
a0001c0001t0002g0277
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0007t0077g0070
a0002c0013t0017g0015
a0003c0004t0049g0139
 10 HG01167.hp1
HG01496.hp1
HG01884.hp1
others(7): Show 
HG01167.hp1
HG01496.hp1
HG01884.hp1
HG02055.hp1
HG02451.hp1
HG02622.hp1
HG02965.hp1
HG03453.hp2
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.1214-10918C>T
c.1214-10918C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78792892
chr5:78792898 T
T
 C
C
 1 a0001c0005t0036g0275
a0001c0005t0036g0275
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.1214-10924A>G
c.1214-10924A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78792898
chr5:78792978 C
C
 T
T
 1 a0001c0001t0001g0035
a0001c0001t0001g0035
 1 NA18957.hp1
NA18957.hp1
 intron_variant MODIFIER c.1214-11004G>A
c.1214-11004G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78792978
chr5:78793000 C
C
 A
A
 18 a0001c0001t0002g0277
a0001c0001t0004g0009
a0001c0003t0022g0178
others(15): Show 
a0001c0001t0002g0277
a0001c0001t0004g0009
a0001c0003t0022g0178
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0017t0002g0088
a0002c0013t0017g0015
a0003c0004t0049g0139
 18 HG01167.hp1
HG01496.hp1
HG01884.hp1
others(15): Show 
HG01167.hp1
HG01496.hp1
HG01884.hp1
HG02055.hp1
HG02451.hp1
HG02615.hp1
HG02622.hp1
HG02717.hp2
HG02886.hp1
HG02895.hp1
HG02965.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp2
NA18906.hp1
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.1214-11026G>T
c.1214-11026G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78793000
chr5:78793110 T
T
 TCCTGTTT
others(15): Show 
TCCTGTTTGGCCCAGCCTGGCCC
 10 a0001c0001t0002g0277
a0001c0005t0017g0003
a0001c0005t0017g0010
others(7): Show 
a0001c0001t0002g0277
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0007t0077g0070
a0002c0013t0017g0015
a0003c0004t0049g0139
 10 HG01167.hp1
HG01496.hp1
HG01884.hp1
others(7): Show 
HG01167.hp1
HG01496.hp1
HG01884.hp1
HG02055.hp1
HG02451.hp1
HG02622.hp1
HG02965.hp1
HG03453.hp2
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.1214-11137_1214-11
others(28): Show 
c.1214-11137_1214-11136insGGGCCAGGCTGGGCCAAACAGG
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78793110
chr5:78793118 G
G
 T
T
 1 a0001c0005t0032g0117
a0001c0005t0032g0117
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.1214-11144C>A
c.1214-11144C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78793118
chr5:78793446 T
T
 C
C
 41 a0001c0001t0001g0024
a0001c0001t0001g0305
a0001c0001t0002g0277
others(38): Show 
a0001c0001t0001g0024
a0001c0001t0001g0305
a0001c0001t0002g0277
a0001c0001t0003g0159
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0208
a0001c0001t0011g0026
a0001c0003t0031g0119
a0001c0003t0060g0210
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0017t0002g0088
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0006g0191
a0002c0002t0009g0080
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0049g0139
a0004c0006t0004g0188
a0004c0006t0004g0215
 42 HG00544.hp2
HG01167.hp1
HG01257.hp2
others(39): Show 
HG00544.hp2
HG01167.hp1
HG01257.hp2
HG01258.hp2
HG01358.hp1
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02055.hp1
HG02071.hp2
HG02080.hp1
HG02135.hp2
HG02155.hp1
HG02293.hp2
HG02451.hp1
HG02523.hp2
HG02615.hp1
HG02622.hp1
HG02717.hp2
HG02886.hp1
HG02965.hp1
HG03017.hp1
HG03098.hp1
HG03453.hp2
HG03486.hp1
HG03540.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp2
NA18906.hp2
NA18951.hp2
NA18993.hp1
NA19001.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19074.hp2
NA19240.hp2
 intron_variant MODIFIER c.1214-11472A>G
c.1214-11472A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78793446
chr5:78793475 G
G
 C
C
 1 a0001c0001t0003g0159
a0001c0001t0003g0159
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.1214-11501C>G
c.1214-11501C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78793475
chr5:78793495 G
G
 A
A
 1 a0001c0005t0013g0004
a0001c0005t0013g0004
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.1214-11521C>T
c.1214-11521C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78793495
chr5:78793588 A
A
 G
G
 5 a0001c0001t0004g0009
a0001c0003t0022g0178
a0001c0003t0028g0051
others(2): Show 
a0001c0001t0004g0009
a0001c0003t0022g0178
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0061g0252
 5 HG02895.hp1
HG03209.hp2
HG03471.hp2
others(2): Show 
HG02895.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp2
NA18906.hp1
 intron_variant MODIFIER c.1214-11614T>C
c.1214-11614T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78793588
chr5:78793590 C
C
 T
T
 1 a0001c0001t0001g0024
a0001c0001t0001g0024
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.1214-11616G>A
c.1214-11616G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78793590
chr5:78793610 T
T
 C
C
 99 a0001c0001t0001g0024
a0001c0001t0001g0305
a0001c0001t0002g0277
others(96): Show 
a0001c0001t0001g0024
a0001c0001t0001g0305
a0001c0001t0002g0277
a0001c0001t0003g0021
a0001c0001t0003g0159
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0041
a0001c0001t0005g0171
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0011g0026
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0065g0017
a0001c0003t0002g0082
a0001c0003t0002g0270
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0009g0281
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0025g0341
a0001c0003t0028g0051
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0017t0002g0088
a0001c0019t0022g0233
a0001c0022t0006g0359
a0002c0002t0003g0129
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0006g0014
a0002c0002t0006g0191
a0002c0002t0009g0080
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0049g0139
a0003c0004t0062g0133
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0024g0061
a0004c0006t0024g0175
 100 HG00423.hp2
HG00438.hp2
HG00544.hp2
others(97): Show 
HG00423.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00738.hp2
HG01070.hp1
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02080.hp1
HG02109.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02293.hp2
HG02451.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp2
HG03942.hp2
HG04184.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18959.hp2
NA18972.hp1
NA18993.hp1
NA19001.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19066.hp2
NA19074.hp2
NA19240.hp1
NA19240.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1214-11636A>G
c.1214-11636A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78793610
chr5:78793633 C
C
 G
G
 3 a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0017t0002g0088
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0017t0002g0088
 3 HG02615.hp1
HG02717.hp2
HG02886.hp1
HG02615.hp1
HG02717.hp2
HG02886.hp1
 intron_variant MODIFIER c.1214-11659G>C
c.1214-11659G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78793633
chr5:78793864 T
T
 C
C
 1 a0002c0002t0001g0345
a0002c0002t0001g0345
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.1214-11890A>G
c.1214-11890A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78793864
chr5:78793909 G
G
 T
T
 1 a0002c0002t0050g0008
a0002c0002t0050g0008
 1 HG00408.hp1
HG00408.hp1
 intron_variant MODIFIER c.1214-11935C>A
c.1214-11935C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78793909
chr5:78794067 T
T
 C
C
 1 a0002c0002t0006g0126
a0002c0002t0006g0126
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.1214-12093A>G
c.1214-12093A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78794067
chr5:78794173 G
G
 C
C
 47 a0001c0001t0001g0024
a0001c0001t0001g0305
a0001c0001t0002g0277
others(44): Show 
a0001c0001t0001g0024
a0001c0001t0001g0305
a0001c0001t0002g0277
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0208
a0001c0001t0011g0026
a0001c0003t0022g0178
a0001c0003t0028g0051
a0001c0003t0031g0119
a0001c0003t0048g0266
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0017t0002g0088
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0006g0191
a0002c0002t0009g0080
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0049g0139
a0004c0006t0004g0188
a0004c0006t0004g0215
 48 HG00544.hp2
HG01167.hp1
HG01257.hp2
others(45): Show 
HG00544.hp2
HG01167.hp1
HG01257.hp2
HG01258.hp2
HG01358.hp1
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02055.hp1
HG02071.hp2
HG02080.hp1
HG02135.hp2
HG02155.hp1
HG02293.hp2
HG02451.hp1
HG02523.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02717.hp2
HG02886.hp1
HG02895.hp1
HG02965.hp1
HG03017.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp2
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18993.hp1
NA19001.hp1
NA19011.hp1
NA19043.hp1
NA19074.hp2
NA19240.hp2
 intron_variant MODIFIER c.1214-12199C>G
c.1214-12199C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78794173
chr5:78794374 G
G
 A
A
 2 a0001c0001t0004g0058
a0001c0003t0031g0119
a0001c0001t0004g0058
a0001c0003t0031g0119
 2 HG03098.hp1
HG03486.hp1
HG03098.hp1
HG03486.hp1
 intron_variant MODIFIER c.1214-12400C>T
c.1214-12400C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78794374
chr5:78794618 G
G
 C
C
 1 a0002c0002t0011g0230
a0002c0002t0011g0230
 1 HG02132.hp2
HG02132.hp2
 intron_variant MODIFIER c.1214-12644C>G
c.1214-12644C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78794618
chr5:78795039 T
T
 G
G
 3 a0001c0001t0004g0278
a0001c0003t0002g0269
a0001c0005t0013g0004
a0001c0001t0004g0278
a0001c0003t0002g0269
a0001c0005t0013g0004
 3 HG02622.hp2
HG03041.hp1
NA19240.hp2
HG02622.hp2
HG03041.hp1
NA19240.hp2
 intron_variant MODIFIER c.1214-13065A>C
c.1214-13065A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78795039
chr5:78795090 C
C
 T
T
 1 a0001c0003t0002g0270
a0001c0003t0002g0270
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.1214-13116G>A
c.1214-13116G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78795090
chr5:78795238 G
G
 A
A
 1 a0001c0001t0004g0083
a0001c0001t0004g0083
 1 HG02523.hp2
HG02523.hp2
 intron_variant MODIFIER c.1214-13264C>T
c.1214-13264C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78795238
chr5:78795251 C
C
 T
T
 3 a0001c0001t0034g0072
a0001c0003t0016g0258
a0001c0003t0034g0071
a0001c0001t0034g0072
a0001c0003t0016g0258
a0001c0003t0034g0071
 3 HG02818.hp1
HG03139.hp1
HG03195.hp1
HG02818.hp1
HG03139.hp1
HG03195.hp1
 intron_variant MODIFIER c.1214-13277G>A
c.1214-13277G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78795251
chr5:78795436 T
T
 C
C
 1 a0003c0004t0001g0154
a0003c0004t0001g0154
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.1214-13462A>G
c.1214-13462A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78795436
chr5:78795577 C
C
 G
G
 1 a0001c0001t0014g0199
a0001c0001t0014g0199
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.1214-13603G>C
c.1214-13603G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78795577
chr5:78795678 T
T
 C
C
 3 a0001c0007t0068g0111
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0007t0068g0111
a0001c0009t0016g0271
a0001c0009t0016g0272
 3 HG01891.hp2
HG02976.hp2
NA19240.hp1
HG01891.hp2
HG02976.hp2
NA19240.hp1
 intron_variant MODIFIER c.1214-13704A>G
c.1214-13704A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78795678
chr5:78795722 T
T
 C
C
 1 a0001c0001t0021g0173
a0001c0001t0021g0173
 1 NA18943.hp2
NA18943.hp2
 intron_variant MODIFIER c.1214-13748A>G
c.1214-13748A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78795722
chr5:78795762 G
G
 A
A
 25 a0001c0001t0002g0277
a0001c0001t0004g0278
a0001c0001t0006g0219
others(22): Show 
a0001c0001t0002g0277
a0001c0001t0004g0278
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0003t0002g0074
a0001c0003t0002g0253
a0001c0003t0002g0269
a0001c0003t0006g0103
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0012g0232
a0001c0003t0018g0057
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0007t0077g0070
a0002c0002t0006g0014
a0002c0013t0017g0015
a0003c0004t0049g0139
 25 HG01167.hp1
HG01496.hp1
HG01884.hp1
others(22): Show 
HG01167.hp1
HG01496.hp1
HG01884.hp1
HG02055.hp1
HG02145.hp1
HG02451.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp2
HG03453.hp2
HG03471.hp1
HG03516.hp2
NA18906.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.1214-13788C>T
c.1214-13788C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78795762
chr5:78795780 T
T
 C
C
 1 a0001c0007t0077g0070
a0001c0007t0077g0070
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.1214-13806A>G
c.1214-13806A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78795780
chr5:78796422 C
C
 T
T
 2 a0001c0005t0074g0073
a0001c0007t0036g0259
a0001c0005t0074g0073
a0001c0007t0036g0259
 2 HG02922.hp1
HG03579.hp1
HG02922.hp1
HG03579.hp1
 intron_variant MODIFIER c.1214-14448G>A
c.1214-14448G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78796422
chr5:78796529 C
C
 A
A
 5 a0001c0001t0034g0072
a0001c0003t0012g0089
a0001c0003t0016g0258
others(2): Show 
a0001c0001t0034g0072
a0001c0003t0012g0089
a0001c0003t0016g0258
a0001c0003t0034g0071
a0001c0022t0006g0359
 5 HG02258.hp2
HG02818.hp1
HG03139.hp1
others(2): Show 
HG02258.hp2
HG02818.hp1
HG03139.hp1
HG03195.hp1
NA19043.hp2
 intron_variant MODIFIER c.1214-14555G>T
c.1214-14555G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78796529
chr5:78796861 C
C
 T
T
 1 a0001c0005t0035g0165
a0001c0005t0035g0165
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.1214-14887G>A
c.1214-14887G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78796861
chr5:78796879 C
C
 CT
CT
 42 a0001c0001t0001g0024
a0001c0001t0001g0305
a0001c0001t0002g0277
others(39): Show 
a0001c0001t0001g0024
a0001c0001t0001g0305
a0001c0001t0002g0277
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0208
a0001c0001t0020g0290
a0001c0003t0002g0074
a0001c0003t0002g0253
a0001c0003t0003g0050
a0001c0003t0012g0232
a0001c0003t0018g0057
a0001c0003t0031g0119
a0001c0003t0060g0210
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0076g0268
a0001c0007t0077g0070
a0001c0015t0027g0102
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0006g0191
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0049g0139
a0004c0006t0004g0188
a0004c0006t0004g0215
 43 HG00544.hp2
HG01070.hp2
HG01071.hp1
others(40): Show 
HG00544.hp2
HG01070.hp2
HG01071.hp1
HG01167.hp1
HG01257.hp2
HG01258.hp2
HG01358.hp1
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02135.hp2
HG02155.hp1
HG02293.hp2
HG02451.hp1
HG02523.hp2
HG02559.hp2
HG02622.hp1
HG02647.hp2
HG02965.hp1
HG03017.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03669.hp1
HG03710.hp2
HG03834.hp2
NA18906.hp2
NA18951.hp2
NA18953.hp1
NA19000.hp2
NA19001.hp1
NA19043.hp1
NA19077.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.1214-14906dupA
c.1214-14906dupA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78796879
chr5:78796879 C
C
 CTT
CTT
 31 a0001c0001t0003g0021
a0001c0001t0004g0278
a0001c0001t0006g0219
others(28): Show 
a0001c0001t0003g0021
a0001c0001t0004g0278
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0065g0017
a0001c0003t0002g0082
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0009g0281
a0001c0003t0012g0350
a0001c0003t0018g0260
a0001c0003t0035g0357
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0036g0275
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0017t0002g0088
a0002c0002t0006g0014
a0002c0002t0023g0162
a0002c0011t0053g0002
a0003c0004t0023g0148
a0003c0004t0023g0151
 31 HG00738.hp2
HG01070.hp1
HG01243.hp2
others(28): Show 
HG00738.hp2
HG01070.hp1
HG01243.hp2
HG02040.hp2
HG02109.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03516.hp2
HG03540.hp1
HG04184.hp1
NA18972.hp1
NA19066.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1214-14907_1214-14
others(8): Show 
c.1214-14907_1214-14906dupAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78796879
chr5:78796879 C
C
 CTTT
CTTT
 7 a0001c0001t0003g0159
a0001c0001t0004g0009
a0001c0003t0022g0178
others(4): Show 
a0001c0001t0003g0159
a0001c0001t0004g0009
a0001c0003t0022g0178
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0009t0016g0271
a0001c0009t0016g0272
 7 HG01891.hp2
HG03209.hp2
HG03471.hp2
others(4): Show 
HG01891.hp2
HG03209.hp2
HG03471.hp2
HG03486.hp2
NA18906.hp1
NA19030.hp2
NA19240.hp1
 intron_variant MODIFIER c.1214-14908_1214-14
others(9): Show 
c.1214-14908_1214-14906dupAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78796879
chr5:78796879 C
C
 CTTTTT
CTTTTT
 8 a0001c0001t0005g0041
a0001c0001t0005g0171
a0001c0001t0005g0235
others(5): Show 
a0001c0001t0005g0041
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0025g0316
a0001c0001t0031g0324
a0002c0002t0025g0213
a0002c0002t0042g0224
a0002c0002t0052g0098
 8 HG00423.hp2
HG00438.hp2
HG00558.hp1
others(5): Show 
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG02027.hp1
HG03130.hp2
HG03225.hp1
NA18747.hp2
NA18959.hp2
 intron_variant MODIFIER c.1214-14910_1214-14
others(11): Show 
c.1214-14910_1214-14906dupAAAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78796879
chr5:78796879 C
C
 CTTTTTT
CTTTTTT
 9 a0001c0001t0024g0182
a0001c0003t0025g0341
a0001c0003t0056g0022
others(6): Show 
a0001c0001t0024g0182
a0001c0003t0025g0341
a0001c0003t0056g0022
a0002c0002t0003g0129
a0002c0002t0057g0284
a0002c0002t0063g0198
a0003c0004t0062g0133
a0004c0006t0024g0061
a0004c0006t0024g0175
 9 HG01109.hp1
HG01167.hp2
HG01175.hp2
others(6): Show 
HG01109.hp1
HG01167.hp2
HG01175.hp2
HG01258.hp1
HG01361.hp2
HG02602.hp2
HG02683.hp1
HG03942.hp2
NA20805.hp2
 intron_variant MODIFIER c.1214-14911_1214-14
others(12): Show 
c.1214-14911_1214-14906dupAAAAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78796879
chr5:78796916 C
C
 T
T
 3 a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0069g0273
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0069g0273
 3 HG02572.hp1
HG02895.hp2
HG02897.hp1
HG02572.hp1
HG02895.hp2
HG02897.hp1
 intron_variant MODIFIER c.1214-14942G>A
c.1214-14942G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78796916
chr5:78796929 G
G
 C
C
 4 a0001c0001t0003g0019
a0001c0001t0013g0329
a0002c0002t0002g0312
others(1): Show 
a0001c0001t0003g0019
a0001c0001t0013g0329
a0002c0002t0002g0312
a0006c0020t0003g0127
 4 NA18612.hp2
NA18950.hp1
NA18953.hp2
others(1): Show 
NA18612.hp2
NA18950.hp1
NA18953.hp2
NA19088.hp2
 intron_variant MODIFIER c.1214-14955C>G
c.1214-14955C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78796929
chr5:78797006 T
T
 G
G
 1 a0002c0002t0015g0207
a0002c0002t0015g0207
 1 NA18951.hp1
NA18951.hp1
 intron_variant MODIFIER c.1214-15032A>C
c.1214-15032A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78797006
chr5:78797069 G
G
 A
A
 7 a0001c0001t0003g0021
a0001c0001t0065g0017
a0001c0003t0009g0281
others(4): Show 
a0001c0001t0003g0021
a0001c0001t0065g0017
a0001c0003t0009g0281
a0002c0002t0023g0162
a0002c0011t0053g0002
a0003c0004t0023g0148
a0003c0004t0023g0151
 7 HG00738.hp2
HG01070.hp1
HG02040.hp2
others(4): Show 
HG00738.hp2
HG01070.hp1
HG02040.hp2
HG04184.hp1
NA18972.hp1
NA19066.hp2
NA20805.hp1
 intron_variant MODIFIER c.1214-15095C>T
c.1214-15095C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78797069
chr5:78797129 C
C
 T
T
 4 a0001c0003t0001g0344
a0002c0002t0001g0158
a0002c0002t0001g0184
others(1): Show 
a0001c0003t0001g0344
a0002c0002t0001g0158
a0002c0002t0001g0184
a0002c0002t0001g0185
 4 HG00099.hp1
HG00140.hp2
HG02698.hp1
others(1): Show 
HG00099.hp1
HG00140.hp2
HG02698.hp1
HG04204.hp2
 intron_variant MODIFIER c.1214-15155G>A
c.1214-15155G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78797129
chr5:78797132 C
C
 A
A
 1 a0002c0002t0012g0228
a0002c0002t0012g0228
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.1214-15158G>T
c.1214-15158G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78797132
chr5:78797167 CGCGCCCG
others(77): Show 
CGCGCCCGGCAGGTCTCGATCTCTTGACCTTGTGATCCGCCTGCCTTGGT
CTCCGAAAGTGCCGGGATTACAGGCACGAGCCACT
 C
C
 2 a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0029g0108
a0003c0004t0029g0109
 2 HG03490.hp2
HG03492.hp1
HG03490.hp2
HG03492.hp1
 intron_variant MODIFIER c.1214-15277_1214-15
others(90): Show 
c.1214-15277_1214-15194delAGTGGCTCGTGCCTGTAATCCCGG
CACTTTCGGAGACCAAGGCAGGCGGATCACAAGGTCAAGAGATCGAGACC
TGCCGGGCGC
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78797167
chr5:78797229 C
C
 T
T
 2 a0001c0003t0012g0350
a0001c0003t0035g0357
a0001c0003t0012g0350
a0001c0003t0035g0357
 2 HG02647.hp1
HG02723.hp1
HG02647.hp1
HG02723.hp1
 intron_variant MODIFIER c.1214-15255G>A
c.1214-15255G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78797229
chr5:78797286 C
C
 T
T
 1 a0001c0003t0002g0262
a0001c0003t0002g0262
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.1214-15312G>A
c.1214-15312G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78797286
chr5:78797498 G
G
 C
C
 1 a0002c0002t0008g0311
a0002c0002t0008g0311
 1 NA18986.hp2
NA18986.hp2
 intron_variant MODIFIER c.1214-15524C>G
c.1214-15524C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78797498
chr5:78797604 C
C
 A
A
 2 a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0009t0016g0271
a0001c0009t0016g0272
 2 HG01891.hp2
NA19240.hp1
HG01891.hp2
NA19240.hp1
 intron_variant MODIFIER c.1214-15630G>T
c.1214-15630G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78797604
chr5:78797645 T
T
 C
C
 2 a0001c0003t0012g0350
a0001c0005t0036g0275
a0001c0003t0012g0350
a0001c0005t0036g0275
 2 HG02647.hp1
HG03540.hp1
HG02647.hp1
HG03540.hp1
 intron_variant MODIFIER c.1214-15671A>G
c.1214-15671A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78797645
chr5:78797759 C
C
 T
T
 2 a0001c0003t0002g0074
a0001c0003t0002g0253
a0001c0003t0002g0074
a0001c0003t0002g0253
 2 HG02647.hp2
HG03471.hp1
HG02647.hp2
HG03471.hp1
 intron_variant MODIFIER c.1214-15785G>A
c.1214-15785G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78797759
chr5:78797800 T
T
 C
C
 10 a0001c0001t0008g0279
a0001c0003t0002g0082
a0001c0003t0002g0270
others(7): Show 
a0001c0001t0008g0279
a0001c0003t0002g0082
a0001c0003t0002g0270
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0018g0260
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0007t0068g0111
 10 HG01243.hp2
HG02109.hp1
HG02280.hp2
others(7): Show 
HG01243.hp2
HG02109.hp1
HG02280.hp2
HG02572.hp1
HG02818.hp2
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02976.hp2
HG03486.hp1
 intron_variant MODIFIER c.1214-15826A>G
c.1214-15826A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78797800
chr5:78797887 A
A
 C
C
 24 a0001c0001t0003g0159
a0001c0001t0004g0009
a0001c0001t0004g0278
others(21): Show 
a0001c0001t0003g0159
a0001c0001t0004g0009
a0001c0001t0004g0278
a0001c0001t0005g0041
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0003t0025g0341
a0001c0003t0056g0022
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0035g0165
a0002c0002t0003g0129
a0002c0002t0006g0014
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0042g0224
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0004c0006t0024g0061
a0004c0006t0024g0175
 24 HG00423.hp2
HG00438.hp2
HG00558.hp1
others(21): Show 
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG01109.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01258.hp1
HG01361.hp2
HG02027.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02896.hp1
HG02965.hp2
HG03130.hp2
HG03209.hp2
HG03834.hp1
HG03942.hp2
NA18747.hp2
NA18959.hp2
NA19030.hp2
NA20805.hp2
 intron_variant MODIFIER c.1214-15913T>G
c.1214-15913T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78797887
chr5:78797926 C
C
 T
T
 1 a0001c0003t0070g0251
a0001c0003t0070g0251
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.1214-15952G>A
c.1214-15952G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78797926
chr5:78798026 T
T
 C
C
 1 a0002c0002t0007g0081
a0002c0002t0007g0081
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.1214-16052A>G
c.1214-16052A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78798026
chr5:78798189 G
G
 T
T
 3 a0001c0001t0002g0261
a0001c0003t0002g0269
a0001c0005t0013g0004
a0001c0001t0002g0261
a0001c0003t0002g0269
a0001c0005t0013g0004
 3 HG02717.hp1
HG03041.hp1
NA19240.hp2
HG02717.hp1
HG03041.hp1
NA19240.hp2
 intron_variant MODIFIER c.1214-16215C>A
c.1214-16215C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78798189
chr5:78798386 T
T
 TA
TA
 11 a0001c0001t0002g0209
a0001c0001t0002g0261
a0001c0001t0003g0021
others(8): Show 
a0001c0001t0002g0209
a0001c0001t0002g0261
a0001c0001t0003g0021
a0001c0003t0002g0269
a0001c0003t0022g0178
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0005t0013g0004
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0017t0002g0088
 11 HG02132.hp1
HG02615.hp1
HG02717.hp1
others(8): Show 
HG02132.hp1
HG02615.hp1
HG02717.hp1
HG02717.hp2
HG02886.hp1
HG03041.hp1
HG03471.hp2
HG03486.hp2
NA18906.hp1
NA18972.hp1
NA19240.hp2
 intron_variant MODIFIER c.1214-16413dupT
c.1214-16413dupT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78798386
chr5:78798386 TA
TA
 T
T
 28 a0001c0001t0002g0005
a0001c0001t0004g0238
a0001c0001t0006g0219
others(25): Show 
a0001c0001t0002g0005
a0001c0001t0004g0238
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0181
a0001c0001t0010g0264
a0001c0001t0014g0189
a0001c0001t0018g0130
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0001g0344
a0001c0003t0002g0262
a0001c0003t0006g0267
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0015g0346
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0032g0117
a0001c0005t0075g0112
a0001c0007t0077g0070
a0002c0002t0001g0158
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0010t0003g0161
a0002c0010t0003g0322
 28 HG00099.hp1
HG00140.hp2
HG00741.hp1
others(25): Show 
HG00099.hp1
HG00140.hp2
HG00741.hp1
HG01167.hp1
HG01515.hp1
HG01517.hp2
HG02145.hp1
HG02451.hp2
HG02615.hp2
HG02698.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp2
HG03225.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03942.hp1
HG04199.hp1
HG04204.hp2
NA18953.hp1
NA19030.hp1
NA21309.hp1
 intron_variant MODIFIER c.1214-16413delT
c.1214-16413delT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78798386
chr5:78798500 C
C
 A
A
 99 a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0143
others(96): Show 
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0021
a0001c0001t0003g0159
a0001c0001t0004g0009
a0001c0001t0004g0058
a0001c0001t0004g0278
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0008g0040
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0297
a0001c0001t0010g0141
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0028
a0001c0001t0024g0182
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0065g0017
a0001c0003t0002g0082
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0025g0341
a0001c0003t0031g0119
a0001c0003t0056g0022
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0068g0111
a0001c0007t0077g0070
a0002c0002t0001g0054
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0179
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0012g0228
a0002c0002t0014g0106
a0002c0002t0023g0162
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0002g0243
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0062g0133
a0004c0006t0024g0061
a0004c0006t0024g0175
 99 HG00280.hp1
HG00544.hp1
HG00609.hp2
others(96): Show 
HG00280.hp1
HG00544.hp1
HG00609.hp2
HG00621.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01257.hp1
HG01258.hp1
HG01346.hp1
HG01361.hp2
HG01496.hp1
HG01884.hp1
HG01978.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02074.hp2
HG02109.hp1
HG02145.hp1
HG02155.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03834.hp1
HG03942.hp2
HG04184.hp1
NA18906.hp2
NA18942.hp1
NA18946.hp2
NA18951.hp2
NA18963.hp2
NA18969.hp1
NA18972.hp1
NA18978.hp1
NA18979.hp2
NA18984.hp2
NA18988.hp1
NA18993.hp2
NA19001.hp1
NA19009.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.1214-16526G>T
c.1214-16526G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78798500
chr5:78798514 C
C
 T
T
 1 a0001c0001t0040g0288
a0001c0001t0040g0288
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.1214-16540G>A
c.1214-16540G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78798514
chr5:78798516 T
T
 C
C
 2 a0001c0003t0012g0089
a0001c0022t0006g0359
a0001c0003t0012g0089
a0001c0022t0006g0359
 2 HG02258.hp2
NA19043.hp2
HG02258.hp2
NA19043.hp2
 intron_variant MODIFIER c.1214-16542A>G
c.1214-16542A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78798516
chr5:78798535 A
A
 G
G
 1 a0001c0001t0020g0290
a0001c0001t0020g0290
 1 NA19077.hp2
NA19077.hp2
 intron_variant MODIFIER c.1214-16561T>C
c.1214-16561T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78798535
chr5:78798560 C
C
 T
T
 32 a0001c0001t0002g0005
a0001c0001t0003g0159
a0001c0001t0004g0009
others(29): Show 
a0001c0001t0002g0005
a0001c0001t0003g0159
a0001c0001t0004g0009
a0001c0001t0004g0278
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0001t0024g0182
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0002g0262
a0001c0003t0006g0267
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0025g0341
a0001c0003t0056g0022
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0035g0165
a0001c0007t0077g0070
a0002c0002t0003g0129
a0002c0002t0006g0014
a0002c0002t0026g0086
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0013t0017g0015
a0003c0004t0062g0133
a0004c0006t0024g0061
a0004c0006t0024g0175
 32 HG00741.hp1
HG01109.hp1
HG01167.hp1
others(29): Show 
HG00741.hp1
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01258.hp1
HG01361.hp2
HG01496.hp1
HG02145.hp1
HG02451.hp2
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02683.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03516.hp2
HG03834.hp1
HG03942.hp2
NA19030.hp1
NA19030.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.1214-16586G>A
c.1214-16586G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78798560
chr5:78798585 C
C
 T
T
 1 a0001c0001t0003g0019
a0001c0001t0003g0019
 1 NA19088.hp2
NA19088.hp2
 intron_variant MODIFIER c.1214-16611G>A
c.1214-16611G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78798585
chr5:78798590 T
T
 C
C
 2 a0003c0004t0001g0153
a0003c0004t0001g0187
a0003c0004t0001g0153
a0003c0004t0001g0187
 2 HG00099.hp2
HG00280.hp2
HG00099.hp2
HG00280.hp2
 intron_variant MODIFIER c.1214-16616A>G
c.1214-16616A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78798590
chr5:78798596 G
G
 A
A
 1 a0002c0002t0001g0069
a0002c0002t0001g0069
 1 NA18970.hp1
NA18970.hp1
 intron_variant MODIFIER c.1214-16622C>T
c.1214-16622C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78798596
chr5:78798736 G
G
 A
A
 1 a0002c0002t0003g0247
a0002c0002t0003g0247
 1 NA19000.hp1
NA19000.hp1
 intron_variant MODIFIER c.1214-16762C>T
c.1214-16762C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78798736
chr5:78798739 C
C
 T
T
 56 a0001c0001t0002g0005
a0001c0001t0003g0159
a0001c0001t0004g0009
others(53): Show 
a0001c0001t0002g0005
a0001c0001t0003g0159
a0001c0001t0004g0009
a0001c0001t0004g0278
a0001c0001t0005g0041
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0018g0130
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0002g0262
a0001c0003t0002g0276
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0166
a0001c0003t0012g0350
a0001c0003t0016g0258
a0001c0003t0022g0178
a0001c0003t0025g0341
a0001c0003t0028g0051
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0017t0002g0088
a0001c0022t0006g0359
a0002c0002t0003g0129
a0002c0002t0006g0014
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0013t0017g0015
a0004c0006t0024g0061
a0004c0006t0024g0175
 56 HG00423.hp2
HG00438.hp2
HG00558.hp1
others(53): Show 
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00741.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01258.hp1
HG01361.hp2
HG01496.hp1
HG01891.hp2
HG01943.hp1
HG01975.hp1
HG02027.hp1
HG02145.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03834.hp1
HG03942.hp2
NA18747.hp2
NA18906.hp1
NA18959.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19240.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1214-16765G>A
c.1214-16765G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78798739
chr5:78798867 A
A
 G
G
 3 a0001c0003t0006g0254
a0001c0003t0012g0350
a0001c0003t0035g0357
a0001c0003t0006g0254
a0001c0003t0012g0350
a0001c0003t0035g0357
 3 HG02647.hp1
HG02723.hp1
NA21309.hp2
HG02647.hp1
HG02723.hp1
NA21309.hp2
 intron_variant MODIFIER c.1214-16893T>C
c.1214-16893T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78798867
chr5:78798873 T
T
 C
C
 1 a0001c0001t0007g0115
a0001c0001t0007g0115
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.1214-16899A>G
c.1214-16899A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78798873
chr5:78798989 C
C
 A
A
 29 a0001c0001t0001g0321
a0001c0001t0002g0277
a0001c0001t0003g0021
others(26): Show 
a0001c0001t0001g0321
a0001c0001t0002g0277
a0001c0001t0003g0021
a0001c0001t0004g0058
a0001c0001t0008g0279
a0001c0001t0065g0017
a0001c0003t0002g0082
a0001c0003t0002g0270
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0009g0281
a0001c0003t0012g0232
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0068g0111
a0002c0002t0023g0162
a0002c0011t0053g0002
a0003c0004t0002g0243
a0003c0004t0023g0148
a0003c0004t0023g0151
 29 HG00673.hp2
HG00738.hp2
HG01070.hp1
others(26): Show 
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01243.hp2
HG01884.hp1
HG02040.hp2
HG02055.hp1
HG02109.hp1
HG02280.hp2
HG02451.hp1
HG02572.hp1
HG02622.hp1
HG02818.hp2
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02976.hp2
HG03098.hp1
HG03453.hp2
HG03486.hp1
HG03540.hp1
HG04184.hp1
NA18906.hp2
NA18972.hp1
NA19066.hp2
NA19074.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
 intron_variant MODIFIER c.1214-17015G>T
c.1214-17015G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78798989
chr5:78798990 A
A
 G
G
 30 a0001c0001t0001g0321
a0001c0001t0002g0277
a0001c0001t0003g0021
others(27): Show 
a0001c0001t0001g0321
a0001c0001t0002g0277
a0001c0001t0003g0021
a0001c0001t0004g0058
a0001c0001t0008g0279
a0001c0001t0065g0017
a0001c0003t0002g0082
a0001c0003t0002g0270
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0232
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0068g0111
a0002c0002t0023g0162
a0002c0011t0053g0002
a0003c0004t0002g0243
a0003c0004t0023g0148
a0003c0004t0023g0151
 30 HG00673.hp2
HG00738.hp2
HG01070.hp1
others(27): Show 
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01243.hp2
HG01884.hp1
HG02040.hp2
HG02055.hp1
HG02109.hp1
HG02280.hp2
HG02451.hp1
HG02572.hp1
HG02622.hp1
HG02818.hp2
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02976.hp2
HG03098.hp1
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03540.hp1
HG04184.hp1
NA18906.hp2
NA18972.hp1
NA19066.hp2
NA19074.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
 intron_variant MODIFIER c.1214-17016T>C
c.1214-17016T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78798990
chr5:78799031 C
C
 G
G
 1 a0002c0002t0008g0311
a0002c0002t0008g0311
 1 NA18986.hp2
NA18986.hp2
 intron_variant MODIFIER c.1214-17057G>C
c.1214-17057G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78799031
chr5:78799031 C
C
 T
T
 91 a0001c0001t0001g0135
a0001c0001t0001g0321
a0001c0001t0002g0092
others(88): Show 
a0001c0001t0001g0135
a0001c0001t0001g0321
a0001c0001t0002g0092
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0003g0021
a0001c0001t0004g0058
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0195
a0001c0001t0005g0235
a0001c0001t0007g0115
a0001c0001t0008g0040
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0297
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0014g0199
a0001c0001t0020g0028
a0001c0001t0025g0316
a0001c0001t0065g0017
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0274
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0028g0051
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0022t0006g0359
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0179
a0002c0002t0002g0314
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0340
a0002c0002t0012g0228
a0002c0002t0014g0106
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0176
a0002c0002t0042g0224
a0002c0002t0055g0094
a0002c0011t0053g0002
a0003c0004t0002g0243
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0049g0139
 91 HG00280.hp1
HG00423.hp2
HG00438.hp2
others(88): Show 
HG00280.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00621.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01109.hp2
HG01243.hp2
HG01257.hp1
HG01346.hp1
HG01884.hp1
HG01891.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02074.hp2
HG02109.hp1
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG04184.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp1
NA18959.hp2
NA18969.hp1
NA18972.hp1
NA18978.hp1
NA18988.hp1
NA19009.hp1
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1214-17057G>A
c.1214-17057G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78799031
chr5:78799238 G
G
 A
A
 4 a0001c0003t0002g0276
a0001c0003t0016g0258
a0001c0003t0035g0357
others(1): Show 
a0001c0003t0002g0276
a0001c0003t0016g0258
a0001c0003t0035g0357
a0001c0022t0006g0359
 4 HG02559.hp1
HG02723.hp1
HG03195.hp1
others(1): Show 
HG02559.hp1
HG02723.hp1
HG03195.hp1
NA19043.hp2
 intron_variant MODIFIER c.1214-17264C>T
c.1214-17264C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78799238
chr5:78799249 T
T
 G
G
 1 a0001c0003t0035g0357
a0001c0003t0035g0357
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1214-17275A>C
c.1214-17275A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78799249
chr5:78799284 C
C
 T
T
 1 a0002c0002t0055g0094
a0002c0002t0055g0094
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.1214-17310G>A
c.1214-17310G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78799284
chr5:78799297 C
C
 T
T
 1 a0002c0002t0001g0299
a0002c0002t0001g0299
 1 NA18949.hp1
NA18949.hp1
 intron_variant MODIFIER c.1214-17323G>A
c.1214-17323G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78799297
chr5:78799540 A
A
 G
G
 123 a0001c0001t0001g0135
a0001c0001t0001g0321
a0001c0001t0002g0005
others(120): Show 
a0001c0001t0001g0135
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0003g0021
a0001c0001t0003g0159
a0001c0001t0004g0009
a0001c0001t0004g0058
a0001c0001t0004g0278
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0195
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0008g0040
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0297
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0028
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0065g0017
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0025g0341
a0001c0003t0028g0051
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0022t0006g0359
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0179
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0012g0228
a0002c0002t0014g0106
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0064g0285
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0002g0243
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0049g0139
a0004c0006t0024g0061
a0004c0006t0024g0175
a0007c0012t0032g0180
 123 HG00280.hp1
HG00423.hp2
HG00438.hp2
others(120): Show 
HG00280.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00621.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01257.hp1
HG01258.hp1
HG01346.hp1
HG01361.hp2
HG01496.hp1
HG01884.hp1
HG01891.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02074.hp2
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp2
HG03834.hp1
HG03942.hp2
HG04184.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp1
NA18959.hp2
NA18969.hp1
NA18972.hp1
NA18978.hp1
NA18988.hp1
NA19009.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1214-17566T>C
c.1214-17566T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78799540
chr5:78799567 T
T
 C
C
 248 a0001c0001t0001g0035
a0001c0001t0001g0135
a0001c0001t0001g0263
others(245): Show 
a0001c0001t0001g0035
a0001c0001t0001g0135
a0001c0001t0001g0263
a0001c0001t0001g0305
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0201
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0159
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0040
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0297
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0046
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0028
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0039g0291
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0014g0106
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0011g0007
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 248 HG00140.hp1
HG00280.hp1
HG00323.hp1
others(245): Show 
HG00140.hp1
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18963.hp2
NA18968.hp2
NA18969.hp1
NA18972.hp1
NA18972.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19004.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19062.hp2
NA19063.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1214-17593A>G
c.1214-17593A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78799567
chr5:78799661 G
G
 A
A
 1 a0001c0001t0040g0288
a0001c0001t0040g0288
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.1214-17687C>T
c.1214-17687C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78799661
chr5:78799699 G
G
 A
A
 1 a0002c0002t0019g0303
a0002c0002t0019g0303
 1 NA18949.hp2
NA18949.hp2
 intron_variant MODIFIER c.1214-17725C>T
c.1214-17725C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78799699
chr5:78799916 G
G
 A
A
 1 a0001c0001t0004g0337
a0001c0001t0004g0337
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.1214-17942C>T
c.1214-17942C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78799916
chr5:78799962 G
G
 A
A
 5 a0001c0001t0002g0317
a0002c0002t0001g0054
a0002c0002t0002g0055
others(2): Show 
a0001c0001t0002g0317
a0002c0002t0001g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
 5 HG00609.hp2
NA18963.hp2
NA18979.hp2
others(2): Show 
HG00609.hp2
NA18963.hp2
NA18979.hp2
NA18984.hp2
NA18993.hp2
 intron_variant MODIFIER c.1214-17988C>T
c.1214-17988C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78799962
chr5:78800026 G
G
 C
C
 1 a0001c0003t0035g0357
a0001c0003t0035g0357
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1214-18052C>G
c.1214-18052C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78800026
chr5:78800179 G
G
 T
T
 70 a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0277
others(67): Show 
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0277
a0001c0001t0003g0021
a0001c0001t0003g0159
a0001c0001t0004g0009
a0001c0001t0004g0058
a0001c0001t0004g0278
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0008g0279
a0001c0001t0018g0130
a0001c0001t0024g0182
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0065g0017
a0001c0003t0002g0082
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0025g0341
a0001c0003t0028g0051
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0022t0006g0359
a0002c0002t0003g0129
a0002c0002t0006g0014
a0002c0002t0023g0162
a0002c0002t0026g0086
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0064g0285
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0002g0243
a0003c0004t0023g0148
a0003c0004t0023g0151
a0004c0006t0024g0061
a0004c0006t0024g0175
 70 HG00673.hp2
HG00738.hp2
HG00741.hp1
others(67): Show 
HG00673.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01258.hp1
HG01361.hp2
HG01496.hp1
HG01884.hp1
HG02040.hp2
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03834.hp1
HG03942.hp2
HG04184.hp1
NA18906.hp1
NA18906.hp2
NA18972.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19066.hp2
NA19074.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.1214-18205C>A
c.1214-18205C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78800179
chr5:78800245 G
G
 T
T
 3 a0001c0003t0022g0178
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0022g0178
a0001c0003t0028g0051
a0001c0003t0048g0266
 3 HG03471.hp2
HG03486.hp2
NA18906.hp1
HG03471.hp2
HG03486.hp2
NA18906.hp1
 intron_variant MODIFIER c.1214-18271C>A
c.1214-18271C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78800245
chr5:78800321 TA
TA
 T
T
 7 a0001c0001t0003g0339
a0001c0003t0002g0349
a0002c0002t0001g0231
others(4): Show 
a0001c0001t0003g0339
a0001c0003t0002g0349
a0002c0002t0001g0231
a0002c0002t0007g0044
a0002c0002t0013g0216
a0002c0002t0015g0207
a0003c0004t0011g0007
 7 HG01168.hp1
HG01168.hp2
HG02135.hp1
others(4): Show 
HG01168.hp1
HG01168.hp2
HG02135.hp1
NA18747.hp1
NA18951.hp1
NA18960.hp1
NA18992.hp1
 intron_variant MODIFIER c.1214-18348delT
c.1214-18348delT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78800321
chr5:78800336 A
A
 AAGC
AAGC
 88 a0001c0001t0001g0135
a0001c0001t0002g0005
a0001c0001t0002g0104
others(85): Show 
a0001c0001t0001g0135
a0001c0001t0002g0005
a0001c0001t0002g0104
a0001c0001t0002g0261
a0001c0001t0003g0159
a0001c0001t0004g0009
a0001c0001t0004g0058
a0001c0001t0004g0278
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0195
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0297
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0028
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0002g0082
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0014g0220
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0025g0341
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0022t0006g0359
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0179
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0012g0228
a0002c0002t0014g0106
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0064g0285
a0002c0013t0017g0015
a0004c0006t0024g0061
a0004c0006t0024g0175
 88 HG00280.hp1
HG00423.hp2
HG00438.hp2
others(85): Show 
HG00280.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00621.hp1
HG00738.hp1
HG00741.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01257.hp1
HG01258.hp1
HG01346.hp1
HG01361.hp2
HG01496.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG02027.hp1
HG02040.hp1
HG02056.hp2
HG02074.hp2
HG02109.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp2
HG03834.hp1
HG03942.hp2
NA18747.hp2
NA18959.hp2
NA18969.hp1
NA18978.hp1
NA18988.hp1
NA19009.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19066.hp1
NA19068.hp1
NA19088.hp1
NA19240.hp2
NA20300.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.1214-18365_1214-18
others(9): Show 
c.1214-18365_1214-18363dupGCT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78800336
chr5:78800336 A
A
 AGC
AGC
 33 a0001c0001t0001g0321
a0001c0001t0002g0092
a0001c0001t0002g0277
others(30): Show 
a0001c0001t0001g0321
a0001c0001t0002g0092
a0001c0001t0002g0277
a0001c0001t0003g0021
a0001c0001t0065g0017
a0001c0003t0002g0074
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0354
a0001c0003t0006g0254
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0009t0016g0271
a0001c0009t0016g0272
a0002c0002t0023g0162
a0002c0011t0053g0002
a0003c0004t0002g0243
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0049g0139
 33 HG00673.hp2
HG00738.hp2
HG01070.hp1
others(30): Show 
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01109.hp2
HG01884.hp1
HG01891.hp2
HG02040.hp2
HG02055.hp1
HG02258.hp1
HG02451.hp1
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02965.hp1
HG03139.hp2
HG03209.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG04184.hp1
NA18906.hp1
NA18906.hp2
NA18972.hp1
NA19043.hp1
NA19066.hp2
NA19074.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1214-18363_1214-18
others(8): Show 
c.1214-18363_1214-18362insGC
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78800336
chr5:78800373 C
C
 T
T
 1 a0001c0015t0027g0102
a0001c0015t0027g0102
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.1214-18399G>A
c.1214-18399G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78800373
chr5:78800433 G
G
 T
T
 2 a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0023g0148
a0003c0004t0023g0151
 2 HG00738.hp2
HG01070.hp1
HG00738.hp2
HG01070.hp1
 intron_variant MODIFIER c.1214-18459C>A
c.1214-18459C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78800433
chr5:78800690 G
G
 A
A
 1 a0001c0003t0002g0013
a0001c0003t0002g0013
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.1214-18716C>T
c.1214-18716C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78800690
chr5:78800801 C
C
 A
A
 1 a0001c0001t0031g0324
a0001c0001t0031g0324
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.1214-18827G>T
c.1214-18827G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78800801
chr5:78800885 T
T
 G
G
 5 a0001c0001t0007g0115
a0001c0003t0006g0254
a0001c0003t0012g0350
others(2): Show 
a0001c0001t0007g0115
a0001c0003t0006g0254
a0001c0003t0012g0350
a0001c0009t0016g0271
a0001c0009t0016g0272
 5 HG01891.hp2
HG02647.hp1
HG02809.hp1
others(2): Show 
HG01891.hp2
HG02647.hp1
HG02809.hp1
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.1214-18911A>C
c.1214-18911A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78800885
chr5:78800938 G
G
 A
A
 1 a0001c0003t0035g0357
a0001c0003t0035g0357
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1214-18964C>T
c.1214-18964C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78800938
chr5:78800939 C
C
 A
A
 1 a0002c0002t0003g0247
a0002c0002t0003g0247
 1 NA19000.hp1
NA19000.hp1
 intron_variant MODIFIER c.1214-18965G>T
c.1214-18965G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78800939
chr5:78801015 TGAG
TGAG
 T
T
 10 a0001c0001t0001g0135
a0001c0001t0005g0041
a0001c0001t0005g0171
others(7): Show 
a0001c0001t0001g0135
a0001c0001t0005g0041
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0025g0316
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0025g0213
 10 HG00438.hp2
HG00558.hp1
HG01943.hp1
others(7): Show 
HG00438.hp2
HG00558.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02027.hp1
HG02615.hp1
HG02717.hp2
NA18747.hp2
NA18959.hp2
 intron_variant MODIFIER c.1214-19044_1214-19
others(9): Show 
c.1214-19044_1214-19042delCTC
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78801015
chr5:78801146 T
T
 C
C
 4 a0001c0003t0006g0254
a0001c0003t0012g0350
a0001c0009t0016g0271
others(1): Show 
a0001c0003t0006g0254
a0001c0003t0012g0350
a0001c0009t0016g0271
a0001c0009t0016g0272
 4 HG01891.hp2
HG02647.hp1
NA19240.hp1
others(1): Show 
HG01891.hp2
HG02647.hp1
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.1214-19172A>G
c.1214-19172A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78801146
chr5:78801397 T
T
 C
C
 122 a0001c0001t0001g0135
a0001c0001t0001g0321
a0001c0001t0002g0005
others(119): Show 
a0001c0001t0001g0135
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0003g0021
a0001c0001t0003g0159
a0001c0001t0004g0009
a0001c0001t0004g0058
a0001c0001t0004g0278
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0195
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0008g0040
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0297
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0028
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0065g0017
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0025g0341
a0001c0003t0028g0051
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0022t0006g0359
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0179
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0012g0228
a0002c0002t0014g0106
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0064g0285
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0002g0243
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0049g0139
a0004c0006t0024g0061
a0004c0006t0024g0175
 122 HG00280.hp1
HG00423.hp2
HG00438.hp2
others(119): Show 
HG00280.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00621.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01257.hp1
HG01258.hp1
HG01346.hp1
HG01361.hp2
HG01496.hp1
HG01884.hp1
HG01891.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02074.hp2
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp2
HG03834.hp1
HG03942.hp2
HG04184.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp1
NA18959.hp2
NA18969.hp1
NA18972.hp1
NA18978.hp1
NA18988.hp1
NA19009.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1214-19423A>G
c.1214-19423A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78801397
chr5:78801466 C
C
 T
T
 20 a0001c0003t0002g0160
a0001c0003t0002g0342
a0001c0003t0041g0155
others(17): Show 
a0001c0003t0002g0160
a0001c0003t0002g0342
a0001c0003t0041g0155
a0001c0017t0002g0088
a0001c0019t0022g0233
a0002c0002t0002g0186
a0002c0002t0006g0126
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0050g0008
a0002c0002t0063g0198
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0014g0164
a0003c0004t0062g0133
a0004c0006t0016g0163
a0004c0006t0016g0221
a0007c0012t0032g0180
 20 HG00323.hp1
HG00323.hp2
HG00408.hp1
others(17): Show 
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00642.hp2
HG00733.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01346.hp2
HG01517.hp1
HG01981.hp1
HG01993.hp2
HG02109.hp2
HG02683.hp1
HG02735.hp1
HG02886.hp1
HG03130.hp1
NA20129.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1214-19492G>A
c.1214-19492G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78801466
chr5:78801514 T
T
 C
C
 3 a0001c0001t0001g0027
a0001c0001t0005g0172
a0002c0002t0005g0241
a0001c0001t0001g0027
a0001c0001t0005g0172
a0002c0002t0005g0241
 3 HG00408.hp2
NA18992.hp2
NA19065.hp1
HG00408.hp2
NA18992.hp2
NA19065.hp1
 intron_variant MODIFIER c.1214-19540A>G
c.1214-19540A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78801514
chr5:78801569 C
C
 T
T
 4 a0001c0003t0006g0254
a0001c0003t0012g0350
a0001c0009t0016g0271
others(1): Show 
a0001c0003t0006g0254
a0001c0003t0012g0350
a0001c0009t0016g0271
a0001c0009t0016g0272
 4 HG01891.hp2
HG02647.hp1
NA19240.hp1
others(1): Show 
HG01891.hp2
HG02647.hp1
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.1214-19595G>A
c.1214-19595G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78801569
chr5:78801662 C
C
 T
T
 1 a0002c0002t0003g0225
a0002c0002t0003g0225
 1 NA19062.hp2
NA19062.hp2
 intron_variant MODIFIER c.1214-19688G>A
c.1214-19688G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78801662
chr5:78801692 C
C
 A
A
 6 a0001c0001t0002g0092
a0001c0003t0002g0074
a0001c0003t0002g0101
others(3): Show 
a0001c0001t0002g0092
a0001c0003t0002g0074
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0354
a0003c0004t0049g0139
 6 HG02258.hp1
HG02647.hp2
HG03139.hp2
others(3): Show 
HG02258.hp1
HG02647.hp2
HG03139.hp2
HG03471.hp1
HG03516.hp1
NA19043.hp1
 intron_variant MODIFIER c.1214-19718G>T
c.1214-19718G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78801692
chr5:78801931 G
G
 A
A
 2 a0001c0001t0011g0026
a0002c0002t0009g0080
a0001c0001t0011g0026
a0002c0002t0009g0080
 2 NA18993.hp1
NA19074.hp2
NA18993.hp1
NA19074.hp2
 intron_variant MODIFIER c.1214-19957C>T
c.1214-19957C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78801931
chr5:78802065 C
C
 T
T
 3 a0001c0001t0001g0263
a0001c0001t0010g0264
a0003c0004t0004g0149
a0001c0001t0001g0263
a0001c0001t0010g0264
a0003c0004t0004g0149
 3 HG03491.hp2
HG03492.hp2
HG03669.hp1
HG03491.hp2
HG03492.hp2
HG03669.hp1
 intron_variant MODIFIER c.1214-20091G>A
c.1214-20091G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78802065
chr5:78802100 T
T
 TGCAAAGG
others(312): Show 
TGCAAAGGTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG
TCGCCCAGGCCGGACTGCGGACTGCAGTGGCACAATCTCGGCTCACTGCA
AGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTA
GCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTT
TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT
GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC
GTGAGCCACCGCGCCCGGCC
 1 a0001c0005t0013g0004
a0001c0005t0013g0004
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.1214-20127_1214-20
others(325): Show 
c.1214-20127_1214-20126insGGCCGGGCGCGGTGGCTCACGCCT
GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA
GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAA
TACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACT
GGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCA
GTGAGCCGAGATTGTGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGA
GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGACCTTTGC
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78802100
chr5:78802100 T
T
 TGCAAAGG
others(315): Show 
TGCAAAGGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT
CTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCACAATCTCGGCTCACT
GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCA
GTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTAT
TTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCT
CCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA
GGCGTGAGCCACCGCGCCCGGCC
 2 a0001c0001t0002g0261
a0001c0003t0002g0269
a0001c0001t0002g0261
a0001c0003t0002g0269
 2 HG02717.hp1
HG03041.hp1
HG02717.hp1
HG03041.hp1
 intron_variant MODIFIER c.1214-20127_1214-20
others(328): Show 
c.1214-20127_1214-20126insGGCCGGGCGCGGTGGCTCACGCCT
GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA
GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAA
TACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACT
GGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCA
GTGAGCCGAGATTGTGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGA
GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGACCTTTGC
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78802100
chr5:78802127 C
C
 T
T
 43 a0001c0001t0002g0005
a0001c0001t0003g0159
a0001c0001t0004g0009
others(40): Show 
a0001c0001t0002g0005
a0001c0001t0003g0159
a0001c0001t0004g0009
a0001c0001t0004g0058
a0001c0001t0004g0278
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0008g0279
a0001c0001t0018g0130
a0001c0001t0024g0182
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0002g0082
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0025g0341
a0001c0003t0031g0119
a0001c0003t0056g0022
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0007t0068g0111
a0001c0007t0077g0070
a0002c0002t0003g0129
a0002c0002t0006g0014
a0002c0002t0026g0086
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0064g0285
a0002c0013t0017g0015
a0004c0006t0024g0061
a0004c0006t0024g0175
 43 HG00741.hp1
HG01167.hp1
HG01167.hp2
others(40): Show 
HG00741.hp1
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01258.hp1
HG01361.hp2
HG01496.hp1
HG02109.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03834.hp1
HG03942.hp2
NA19030.hp1
NA19030.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.1214-20153G>A
c.1214-20153G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78802127
chr5:78802134 T
T
 C
C
 122 a0001c0001t0001g0135
a0001c0001t0001g0321
a0001c0001t0002g0005
others(119): Show 
a0001c0001t0001g0135
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0003g0021
a0001c0001t0003g0159
a0001c0001t0004g0009
a0001c0001t0004g0058
a0001c0001t0004g0278
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0195
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0008g0040
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0297
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0028
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0065g0017
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0025g0341
a0001c0003t0028g0051
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0022t0006g0359
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0179
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0012g0228
a0002c0002t0014g0106
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0064g0285
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0002g0243
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0049g0139
a0004c0006t0024g0061
a0004c0006t0024g0175
 122 HG00280.hp1
HG00423.hp2
HG00438.hp2
others(119): Show 
HG00280.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00621.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01257.hp1
HG01258.hp1
HG01346.hp1
HG01361.hp2
HG01496.hp1
HG01884.hp1
HG01891.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02074.hp2
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp2
HG03834.hp1
HG03942.hp2
HG04184.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp1
NA18959.hp2
NA18969.hp1
NA18972.hp1
NA18978.hp1
NA18988.hp1
NA19009.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1214-20160A>G
c.1214-20160A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78802134
chr5:78802393 G
G
 A
A
 4 a0001c0003t0006g0254
a0001c0003t0012g0350
a0001c0009t0016g0271
others(1): Show 
a0001c0003t0006g0254
a0001c0003t0012g0350
a0001c0009t0016g0271
a0001c0009t0016g0272
 4 HG01891.hp2
HG02647.hp1
NA19240.hp1
others(1): Show 
HG01891.hp2
HG02647.hp1
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.1214-20419C>T
c.1214-20419C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78802393
chr5:78802411 A
A
 AC
AC
 12 a0001c0001t0004g0058
a0001c0001t0008g0279
a0001c0003t0002g0082
others(9): Show 
a0001c0001t0004g0058
a0001c0001t0008g0279
a0001c0003t0002g0082
a0001c0003t0002g0270
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0018g0260
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0005t0036g0275
a0001c0007t0068g0111
 12 HG01243.hp2
HG02109.hp1
HG02280.hp2
others(9): Show 
HG01243.hp2
HG02109.hp1
HG02280.hp2
HG02572.hp1
HG02818.hp2
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02976.hp2
HG03098.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.1214-20438dupG
c.1214-20438dupG
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78802411
chr5:78802801 T
T
 G
G
 13 a0001c0001t0002g0092
a0001c0003t0002g0074
a0001c0003t0002g0101
others(10): Show 
a0001c0001t0002g0092
a0001c0003t0002g0074
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0354
a0001c0003t0006g0254
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0009t0016g0271
a0001c0009t0016g0272
a0003c0004t0049g0139
 13 HG01891.hp2
HG02258.hp1
HG02647.hp1
others(10): Show 
HG01891.hp2
HG02258.hp1
HG02647.hp1
HG02647.hp2
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
NA18906.hp1
NA19043.hp1
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.1214-20827A>C
c.1214-20827A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78802801
chr5:78802901 G
G
 A
A
 1 a0001c0001t0014g0199
a0001c0001t0014g0199
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.1214-20927C>T
c.1214-20927C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78802901
chr5:78802924 G
G
 C
C
 2 a0001c0001t0003g0159
a0001c0001t0004g0009
a0001c0001t0003g0159
a0001c0001t0004g0009
 2 HG03209.hp2
NA19030.hp2
HG03209.hp2
NA19030.hp2
 intron_variant MODIFIER c.1214-20950C>G
c.1214-20950C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78802924
chr5:78803159 G
G
 A
A
 5 a0001c0001t0007g0250
a0001c0001t0034g0072
a0001c0003t0012g0177
others(2): Show 
a0001c0001t0007g0250
a0001c0001t0034g0072
a0001c0003t0012g0177
a0001c0003t0028g0348
a0001c0003t0034g0071
 5 HG01243.hp1
HG01891.hp1
HG02818.hp1
others(2): Show 
HG01243.hp1
HG01891.hp1
HG02818.hp1
HG03139.hp1
HG03225.hp2
 intron_variant MODIFIER c.1214-21185C>T
c.1214-21185C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78803159
chr5:78803171 T
T
 C
C
 29 a0001c0001t0001g0321
a0001c0001t0002g0277
a0001c0001t0003g0021
others(26): Show 
a0001c0001t0001g0321
a0001c0001t0002g0277
a0001c0001t0003g0021
a0001c0001t0007g0115
a0001c0001t0065g0017
a0001c0003t0002g0276
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0028g0051
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0022t0006g0359
a0002c0002t0023g0162
a0002c0011t0053g0002
a0003c0004t0002g0243
a0003c0004t0023g0148
a0003c0004t0023g0151
 29 HG00673.hp2
HG00738.hp2
HG01070.hp1
others(26): Show 
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01109.hp2
HG01884.hp1
HG01891.hp2
HG02040.hp2
HG02055.hp1
HG02451.hp1
HG02559.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp1
HG02965.hp1
HG03209.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG04184.hp1
NA18906.hp1
NA18906.hp2
NA18972.hp1
NA19043.hp2
NA19066.hp2
NA19074.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
 intron_variant MODIFIER c.1214-21197A>G
c.1214-21197A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78803171
chr5:78803250 C
C
 T
T
 12 a0001c0001t0004g0058
a0001c0001t0008g0279
a0001c0003t0002g0082
others(9): Show 
a0001c0001t0004g0058
a0001c0001t0008g0279
a0001c0003t0002g0082
a0001c0003t0002g0270
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0018g0260
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0005t0036g0275
a0001c0007t0068g0111
 12 HG01243.hp2
HG02109.hp1
HG02280.hp2
others(9): Show 
HG01243.hp2
HG02109.hp1
HG02280.hp2
HG02572.hp1
HG02818.hp2
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02976.hp2
HG03098.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.1214-21276G>A
c.1214-21276G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78803250
chr5:78803274 C
C
 T
T
 1 a0003c0004t0062g0133
a0003c0004t0062g0133
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.1214-21300G>A
c.1214-21300G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78803274
chr5:78803290 C
C
 T
T
 1 a0001c0005t0032g0117
a0001c0005t0032g0117
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.1214-21316G>A
c.1214-21316G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78803290
chr5:78803306 T
T
 TAATACAA
others(17): Show 
TAATACAATTAAATTAATACAATTA
 1 a0001c0003t0002g0354
a0001c0003t0002g0354
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.1214-21333_1214-21
others(30): Show 
c.1214-21333_1214-21332insTAATTGTATTAATTTAATTGTATT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78803306
chr5:78803357 G
G
 A
A
 2 a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0008t0002g0120
a0001c0008t0008g0118
 2 HG02615.hp1
HG02717.hp2
HG02615.hp1
HG02717.hp2
 intron_variant MODIFIER c.1214-21383C>T
c.1214-21383C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78803357
chr5:78803402 C
C
 A
A
 2 a0001c0003t0006g0254
a0001c0003t0012g0350
a0001c0003t0006g0254
a0001c0003t0012g0350
 2 HG02647.hp1
NA21309.hp2
HG02647.hp1
NA21309.hp2
 intron_variant MODIFIER c.1214-21428G>T
c.1214-21428G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78803402
chr5:78803542 C
C
 T
T
 2 a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0008t0002g0120
a0001c0008t0008g0118
 2 HG02615.hp1
HG02717.hp2
HG02615.hp1
HG02717.hp2
 intron_variant MODIFIER c.1214-21568G>A
c.1214-21568G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78803542
chr5:78803690 A
A
 G
G
 1 a0002c0002t0003g0025
a0002c0002t0003g0025
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.1214-21716T>C
c.1214-21716T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78803690
chr5:78803891 C
C
 T
T
 1 a0001c0001t0002g0145
a0001c0001t0002g0145
 1 NA18995.hp1
NA18995.hp1
 intron_variant MODIFIER c.1214-21917G>A
c.1214-21917G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78803891
chr5:78803893 T
T
 C
C
 30 a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0200
others(27): Show 
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0195
a0001c0001t0008g0040
a0001c0001t0008g0223
a0001c0001t0008g0297
a0001c0001t0010g0141
a0001c0001t0014g0199
a0001c0001t0020g0028
a0001c0003t0005g0060
a0001c0003t0014g0220
a0001c0003t0060g0210
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0179
a0002c0002t0002g0314
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0340
a0002c0002t0012g0228
a0002c0002t0014g0106
a0002c0002t0026g0176
a0002c0002t0055g0094
 30 HG00280.hp1
HG00544.hp1
HG00544.hp2
others(27): Show 
HG00280.hp1
HG00544.hp1
HG00544.hp2
HG00621.hp1
HG00738.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01257.hp1
HG01346.hp1
HG01978.hp2
HG02040.hp1
HG02056.hp2
HG02074.hp2
HG02683.hp2
HG03669.hp2
NA18942.hp1
NA18946.hp2
NA18969.hp1
NA18978.hp1
NA18988.hp1
NA19009.hp1
NA19010.hp2
NA19063.hp2
NA19066.hp1
NA19068.hp1
NA19088.hp1
NA20300.hp2
 intron_variant MODIFIER c.1214-21919A>G
c.1214-21919A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78803893
chr5:78804176 G
G
 A
A
 6 a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
others(3): Show 
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0195
a0002c0002t0005g0042
a0002c0002t0005g0192
 6 HG00738.hp1
HG01069.hp2
HG01071.hp2
others(3): Show 
HG00738.hp1
HG01069.hp2
HG01071.hp2
HG01257.hp1
HG01346.hp1
NA20300.hp2
 intron_variant MODIFIER c.1214-22202C>T
c.1214-22202C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78804176
chr5:78804213 GA
GA
 G
G
 24 a0001c0001t0001g0321
a0001c0001t0002g0317
a0001c0001t0003g0021
others(21): Show 
a0001c0001t0001g0321
a0001c0001t0002g0317
a0001c0001t0003g0021
a0001c0001t0021g0347
a0001c0001t0065g0017
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0076g0268
a0002c0002t0001g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0023g0162
a0002c0011t0053g0002
a0003c0004t0002g0243
a0003c0004t0023g0148
a0003c0004t0023g0151
 24 HG00609.hp2
HG00673.hp2
HG00738.hp2
others(21): Show 
HG00609.hp2
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01109.hp2
HG01884.hp1
HG02040.hp2
HG02055.hp1
HG02451.hp1
HG02622.hp1
HG02965.hp1
HG03209.hp1
HG04184.hp1
NA18906.hp2
NA18963.hp1
NA18963.hp2
NA18972.hp1
NA18979.hp2
NA18984.hp2
NA18993.hp2
NA19066.hp2
NA19074.hp1
NA20300.hp1
NA20805.hp1
 intron_variant MODIFIER c.1214-22240delT
c.1214-22240delT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78804213
chr5:78804253 A
A
 G
G
 3 a0001c0001t0002g0261
a0001c0003t0002g0269
a0001c0005t0013g0004
a0001c0001t0002g0261
a0001c0003t0002g0269
a0001c0005t0013g0004
 3 HG02717.hp1
HG03041.hp1
NA19240.hp2
HG02717.hp1
HG03041.hp1
NA19240.hp2
 intron_variant MODIFIER c.1214-22279T>C
c.1214-22279T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78804253
chr5:78804256 A
A
 G
G
 1 a0001c0003t0012g0166
a0001c0003t0012g0166
 1 HG01109.hp2
HG01109.hp2
 intron_variant MODIFIER c.1214-22282T>C
c.1214-22282T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78804256
chr5:78804366 G
G
 A
A
 1 a0001c0001t0040g0288
a0001c0001t0040g0288
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.1214-22392C>T
c.1214-22392C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78804366
chr5:78804584 C
C
 A
A
 3 a0001c0003t0002g0160
a0001c0003t0002g0342
a0002c0002t0002g0186
a0001c0003t0002g0160
a0001c0003t0002g0342
a0002c0002t0002g0186
 3 HG00642.hp2
HG01981.hp1
NA20752.hp2
HG00642.hp2
HG01981.hp1
NA20752.hp2
 intron_variant MODIFIER c.1214-22610G>T
c.1214-22610G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78804584
chr5:78804634 T
T
 C
C
 1 a0001c0003t0002g0078
a0001c0003t0002g0078
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.1214-22660A>G
c.1214-22660A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78804634
chr5:78804829 C
C
 T
T
 52 a0001c0001t0001g0135
a0001c0001t0002g0005
a0001c0001t0003g0159
others(49): Show 
a0001c0001t0001g0135
a0001c0001t0002g0005
a0001c0001t0003g0159
a0001c0001t0004g0009
a0001c0001t0004g0058
a0001c0001t0004g0278
a0001c0001t0005g0041
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0008g0279
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0018g0130
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0002g0082
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0025g0341
a0001c0003t0031g0119
a0001c0003t0056g0022
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0007t0068g0111
a0001c0007t0077g0070
a0002c0002t0003g0129
a0002c0002t0006g0014
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0064g0285
a0002c0013t0017g0015
a0004c0006t0024g0061
a0004c0006t0024g0175
 52 HG00423.hp2
HG00438.hp2
HG00558.hp1
others(49): Show 
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00741.hp1
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01258.hp1
HG01361.hp2
HG01496.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02027.hp1
HG02109.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03834.hp1
HG03942.hp2
NA18747.hp2
NA18959.hp2
NA19030.hp1
NA19030.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.1214-22855G>A
c.1214-22855G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78804829
chr5:78804863 A
A
 T
T
 3 a0001c0003t0003g0334
a0001c0003t0022g0229
a0002c0002t0003g0247
a0001c0003t0003g0334
a0001c0003t0022g0229
a0002c0002t0003g0247
 3 NA19000.hp1
NA19063.hp1
NA19085.hp1
NA19000.hp1
NA19063.hp1
NA19085.hp1
 intron_variant MODIFIER c.1214-22889T>A
c.1214-22889T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78804863
chr5:78804943 C
C
 G
G
 4 a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
others(1): Show 
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0003c0004t0001g0124
 4 HG01433.hp1
HG01993.hp1
HG02293.hp1
others(1): Show 
HG01433.hp1
HG01993.hp1
HG02293.hp1
NA18952.hp1
 intron_variant MODIFIER c.1214-22969G>C
c.1214-22969G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78804943
chr5:78804956 A
A
 G
G
 16 a0001c0001t0002g0005
a0001c0001t0006g0219
a0001c0001t0006g0356
others(13): Show 
a0001c0001t0002g0005
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0002g0262
a0001c0003t0006g0267
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0016g0258
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0007t0077g0070
a0002c0002t0006g0014
a0002c0002t0052g0098
 16 HG00741.hp1
HG01167.hp1
HG02145.hp1
others(13): Show 
HG00741.hp1
HG01167.hp1
HG02145.hp1
HG02451.hp2
HG02615.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG03041.hp2
HG03098.hp2
HG03195.hp1
HG03225.hp1
HG03516.hp2
NA19030.hp1
NA21309.hp1
 intron_variant MODIFIER c.1214-22982T>C
c.1214-22982T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78804956
chr5:78804977 A
A
 T
T
 79 a0001c0001t0001g0135
a0001c0001t0001g0321
a0001c0001t0002g0005
others(76): Show 
a0001c0001t0001g0135
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0277
a0001c0001t0003g0021
a0001c0001t0003g0159
a0001c0001t0004g0009
a0001c0001t0004g0058
a0001c0001t0004g0278
a0001c0001t0005g0041
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0008g0279
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0018g0130
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0065g0017
a0001c0003t0002g0082
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0025g0341
a0001c0003t0028g0051
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0022t0006g0359
a0002c0002t0003g0129
a0002c0002t0006g0014
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0064g0285
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0002g0243
a0003c0004t0023g0148
a0003c0004t0023g0151
a0004c0006t0024g0061
a0004c0006t0024g0175
 79 HG00423.hp2
HG00438.hp2
HG00558.hp1
others(76): Show 
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00673.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01258.hp1
HG01361.hp2
HG01496.hp1
HG01884.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02027.hp1
HG02040.hp2
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03834.hp1
HG03942.hp2
HG04184.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18959.hp2
NA18972.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19066.hp2
NA19074.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.1214-23003T>A
c.1214-23003T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78804977
chr5:78805029 G
G
 A
A
 1 a0001c0001t0001g0305
a0001c0001t0001g0305
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.1214-23055C>T
c.1214-23055C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78805029
chr5:78805036 A
A
 G
G
 2 a0001c0001t0003g0159
a0001c0001t0004g0009
a0001c0001t0003g0159
a0001c0001t0004g0009
 2 HG03209.hp2
NA19030.hp2
HG03209.hp2
NA19030.hp2
 intron_variant MODIFIER c.1214-23062T>C
c.1214-23062T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78805036
chr5:78805126 G
G
 T
T
 5 a0001c0001t0007g0250
a0001c0001t0034g0072
a0001c0003t0012g0177
others(2): Show 
a0001c0001t0007g0250
a0001c0001t0034g0072
a0001c0003t0012g0177
a0001c0003t0028g0348
a0001c0003t0034g0071
 5 HG01243.hp1
HG01891.hp1
HG02818.hp1
others(2): Show 
HG01243.hp1
HG01891.hp1
HG02818.hp1
HG03139.hp1
HG03225.hp2
 intron_variant MODIFIER c.1214-23152C>A
c.1214-23152C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78805126
chr5:78805153 G
G
 C
C
 3 a0002c0002t0023g0162
a0003c0004t0023g0148
a0003c0004t0023g0151
a0002c0002t0023g0162
a0003c0004t0023g0148
a0003c0004t0023g0151
 3 HG00738.hp2
HG01070.hp1
NA20805.hp1
HG00738.hp2
HG01070.hp1
NA20805.hp1
 intron_variant MODIFIER c.1214-23179C>G
c.1214-23179C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78805153
chr5:78805267 T
T
 C
C
 52 a0001c0001t0001g0135
a0001c0001t0002g0005
a0001c0001t0003g0159
others(49): Show 
a0001c0001t0001g0135
a0001c0001t0002g0005
a0001c0001t0003g0159
a0001c0001t0004g0009
a0001c0001t0004g0058
a0001c0001t0004g0278
a0001c0001t0005g0041
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0008g0279
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0018g0130
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0002g0082
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0025g0341
a0001c0003t0031g0119
a0001c0003t0056g0022
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0007t0068g0111
a0001c0007t0077g0070
a0002c0002t0003g0129
a0002c0002t0006g0014
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0064g0285
a0002c0013t0017g0015
a0004c0006t0024g0061
a0004c0006t0024g0175
 52 HG00423.hp2
HG00438.hp2
HG00558.hp1
others(49): Show 
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00741.hp1
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01258.hp1
HG01361.hp2
HG01496.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02027.hp1
HG02109.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03834.hp1
HG03942.hp2
NA18747.hp2
NA18959.hp2
NA19030.hp1
NA19030.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.1214-23293A>G
c.1214-23293A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78805267
chr5:78805368 G
G
 A
A
 52 a0001c0001t0001g0135
a0001c0001t0002g0005
a0001c0001t0003g0159
others(49): Show 
a0001c0001t0001g0135
a0001c0001t0002g0005
a0001c0001t0003g0159
a0001c0001t0004g0009
a0001c0001t0004g0058
a0001c0001t0004g0278
a0001c0001t0005g0041
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0008g0279
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0018g0130
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0002g0082
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0025g0341
a0001c0003t0031g0119
a0001c0003t0056g0022
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0007t0068g0111
a0001c0007t0077g0070
a0002c0002t0003g0129
a0002c0002t0006g0014
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0064g0285
a0002c0013t0017g0015
a0004c0006t0024g0061
a0004c0006t0024g0175
 52 HG00423.hp2
HG00438.hp2
HG00558.hp1
others(49): Show 
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00741.hp1
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01258.hp1
HG01361.hp2
HG01496.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02027.hp1
HG02109.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03834.hp1
HG03942.hp2
NA18747.hp2
NA18959.hp2
NA19030.hp1
NA19030.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.1214-23394C>T
c.1214-23394C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78805368
chr5:78805656 T
T
 C
C
 3 a0001c0003t0022g0178
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0022g0178
a0001c0003t0028g0051
a0001c0003t0048g0266
 3 HG03471.hp2
HG03486.hp2
NA18906.hp1
HG03471.hp2
HG03486.hp2
NA18906.hp1
 intron_variant MODIFIER c.1214-23682A>G
c.1214-23682A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78805656
chr5:78805769 C
C
 T
T
 9 a0001c0001t0001g0135
a0001c0001t0005g0041
a0001c0001t0005g0171
others(6): Show 
a0001c0001t0001g0135
a0001c0001t0005g0041
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0025g0316
a0002c0002t0025g0213
a0002c0002t0042g0224
 9 HG00423.hp2
HG00438.hp2
HG00558.hp1
others(6): Show 
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02027.hp1
NA18747.hp2
NA18959.hp2
 intron_variant MODIFIER c.1214-23795G>A
c.1214-23795G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78805769
chr5:78805805 T
T
 G
G
 9 a0001c0001t0001g0135
a0001c0001t0005g0041
a0001c0001t0005g0171
others(6): Show 
a0001c0001t0001g0135
a0001c0001t0005g0041
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0025g0316
a0002c0002t0025g0213
a0002c0002t0042g0224
 9 HG00423.hp2
HG00438.hp2
HG00558.hp1
others(6): Show 
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02027.hp1
NA18747.hp2
NA18959.hp2
 intron_variant MODIFIER c.1214-23831A>C
c.1214-23831A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78805805
chr5:78806040 T
T
 A
A
 2 a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0009t0016g0271
a0001c0009t0016g0272
 2 HG01891.hp2
NA19240.hp1
HG01891.hp2
NA19240.hp1
 intron_variant MODIFIER c.1214-24066A>T
c.1214-24066A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78806040
chr5:78806194 G
G
 A
A
 5 a0001c0001t0007g0115
a0001c0003t0006g0254
a0001c0003t0012g0350
others(2): Show 
a0001c0001t0007g0115
a0001c0003t0006g0254
a0001c0003t0012g0350
a0001c0009t0016g0271
a0001c0009t0016g0272
 5 HG01891.hp2
HG02647.hp1
HG02809.hp1
others(2): Show 
HG01891.hp2
HG02647.hp1
HG02809.hp1
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.1214-24220C>T
c.1214-24220C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78806194
chr5:78806300 G
G
 A
A
 74 a0001c0001t0001g0135
a0001c0001t0001g0321
a0001c0001t0002g0005
others(71): Show 
a0001c0001t0001g0135
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0277
a0001c0001t0003g0021
a0001c0001t0003g0159
a0001c0001t0004g0009
a0001c0001t0004g0058
a0001c0001t0004g0278
a0001c0001t0005g0041
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0008g0279
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0018g0130
a0001c0001t0024g0182
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0065g0017
a0001c0003t0002g0082
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0025g0341
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0056g0022
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0022t0006g0359
a0002c0002t0003g0129
a0002c0002t0006g0014
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0064g0285
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0002g0243
a0003c0004t0023g0148
a0003c0004t0023g0151
a0004c0006t0024g0061
a0004c0006t0024g0175
 74 HG00423.hp2
HG00438.hp2
HG00558.hp1
others(71): Show 
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00673.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01258.hp1
HG01361.hp2
HG01496.hp1
HG01884.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02027.hp1
HG02040.hp2
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03834.hp1
HG03942.hp2
HG04184.hp1
NA18747.hp2
NA18906.hp2
NA18972.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19066.hp2
NA19074.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.1214-24326C>T
c.1214-24326C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78806300
chr5:78806477 A
A
 T
T
 27 a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0005g0075
others(24): Show 
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0195
a0001c0001t0008g0040
a0001c0001t0008g0223
a0001c0001t0008g0297
a0001c0001t0010g0141
a0001c0001t0014g0199
a0001c0001t0020g0028
a0001c0003t0005g0060
a0001c0003t0014g0220
a0001c0003t0060g0210
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0340
a0002c0002t0012g0228
a0002c0002t0014g0106
a0002c0002t0026g0176
a0002c0002t0055g0094
 27 HG00280.hp1
HG00544.hp2
HG00621.hp1
others(24): Show 
HG00280.hp1
HG00544.hp2
HG00621.hp1
HG00738.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01257.hp1
HG01346.hp1
HG01978.hp2
HG02056.hp2
HG02074.hp2
HG02683.hp2
HG03669.hp2
NA18942.hp1
NA18946.hp2
NA18969.hp1
NA18978.hp1
NA18988.hp1
NA19009.hp1
NA19010.hp2
NA19063.hp2
NA19068.hp1
NA19088.hp1
NA20300.hp2
 intron_variant MODIFIER c.1214-24503T>A
c.1214-24503T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78806477
chr5:78806616 C
C
 T
T
 2 a0001c0001t0001g0263
a0001c0001t0010g0264
a0001c0001t0001g0263
a0001c0001t0010g0264
 2 HG03491.hp2
HG03492.hp2
HG03491.hp2
HG03492.hp2
 intron_variant MODIFIER c.1214-24642G>A
c.1214-24642G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78806616
chr5:78806660 G
G
 A
A
 78 a0001c0001t0001g0135
a0001c0001t0001g0321
a0001c0001t0002g0005
others(75): Show 
a0001c0001t0001g0135
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0277
a0001c0001t0003g0021
a0001c0001t0003g0159
a0001c0001t0004g0009
a0001c0001t0004g0058
a0001c0001t0004g0278
a0001c0001t0005g0041
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0008g0279
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0018g0130
a0001c0001t0024g0182
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0065g0017
a0001c0003t0002g0082
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0025g0341
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0056g0022
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0022t0006g0359
a0002c0002t0003g0129
a0002c0002t0006g0014
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0064g0285
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0002g0243
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0049g0139
a0004c0006t0024g0061
a0004c0006t0024g0175
 78 HG00423.hp2
HG00438.hp2
HG00558.hp1
others(75): Show 
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00673.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01258.hp1
HG01361.hp2
HG01496.hp1
HG01884.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02027.hp1
HG02040.hp2
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02723.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03834.hp1
HG03942.hp2
HG04184.hp1
NA18747.hp2
NA18906.hp2
NA18972.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19066.hp2
NA19074.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.1214-24686C>T
c.1214-24686C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78806660
chr5:78806707 T
T
 C
C
 3 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
 3 NA18947.hp1
NA18962.hp1
NA19010.hp1
NA18947.hp1
NA18962.hp1
NA19010.hp1
 intron_variant MODIFIER c.1214-24733A>G
c.1214-24733A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78806707
chr5:78806816 C
C
 T
T
 78 a0001c0001t0001g0135
a0001c0001t0001g0321
a0001c0001t0002g0005
others(75): Show 
a0001c0001t0001g0135
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0277
a0001c0001t0003g0021
a0001c0001t0003g0159
a0001c0001t0004g0009
a0001c0001t0004g0058
a0001c0001t0004g0278
a0001c0001t0005g0041
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0008g0279
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0018g0130
a0001c0001t0024g0182
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0065g0017
a0001c0003t0002g0082
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0025g0341
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0056g0022
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0022t0006g0359
a0002c0002t0003g0129
a0002c0002t0006g0014
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0064g0285
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0002g0243
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0049g0139
a0004c0006t0024g0061
a0004c0006t0024g0175
 78 HG00423.hp2
HG00438.hp2
HG00558.hp1
others(75): Show 
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00673.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01258.hp1
HG01361.hp2
HG01496.hp1
HG01884.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02027.hp1
HG02040.hp2
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02723.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03834.hp1
HG03942.hp2
HG04184.hp1
NA18747.hp2
NA18906.hp2
NA18972.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19066.hp2
NA19074.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.1214-24842G>A
c.1214-24842G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78806816
chr5:78806821 T
T
 A
A
 78 a0001c0001t0001g0135
a0001c0001t0001g0321
a0001c0001t0002g0005
others(75): Show 
a0001c0001t0001g0135
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0277
a0001c0001t0003g0021
a0001c0001t0003g0159
a0001c0001t0004g0009
a0001c0001t0004g0058
a0001c0001t0004g0278
a0001c0001t0005g0041
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0008g0279
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0018g0130
a0001c0001t0024g0182
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0065g0017
a0001c0003t0002g0082
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0025g0341
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0056g0022
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0022t0006g0359
a0002c0002t0003g0129
a0002c0002t0006g0014
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0064g0285
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0002g0243
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0049g0139
a0004c0006t0024g0061
a0004c0006t0024g0175
 78 HG00423.hp2
HG00438.hp2
HG00558.hp1
others(75): Show 
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00673.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01258.hp1
HG01361.hp2
HG01496.hp1
HG01884.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02027.hp1
HG02040.hp2
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02723.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03834.hp1
HG03942.hp2
HG04184.hp1
NA18747.hp2
NA18906.hp2
NA18972.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19066.hp2
NA19074.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.1214-24847A>T
c.1214-24847A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78806821
chr5:78806825 C
C
 G
G
 110 a0001c0001t0001g0135
a0001c0001t0001g0321
a0001c0001t0002g0005
others(107): Show 
a0001c0001t0001g0135
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0003g0021
a0001c0001t0003g0159
a0001c0001t0004g0009
a0001c0001t0004g0058
a0001c0001t0004g0278
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0195
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0008g0040
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0297
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0028
a0001c0001t0024g0182
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0065g0017
a0001c0003t0002g0082
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0025g0341
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0022t0006g0359
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0179
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0012g0228
a0002c0002t0014g0106
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0064g0285
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0002g0243
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0049g0139
a0004c0006t0024g0061
a0004c0006t0024g0175
 110 HG00280.hp1
HG00423.hp2
HG00438.hp2
others(107): Show 
HG00280.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00621.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01257.hp1
HG01258.hp1
HG01346.hp1
HG01361.hp2
HG01496.hp1
HG01884.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02074.hp2
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp2
HG03834.hp1
HG03942.hp2
HG04184.hp1
NA18747.hp2
NA18906.hp2
NA18942.hp1
NA18969.hp1
NA18972.hp1
NA18978.hp1
NA18988.hp1
NA19009.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.1214-24851G>C
c.1214-24851G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78806825
chr5:78806840 G
G
 A
A
 1 a0001c0003t0012g0089
a0001c0003t0012g0089
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.1214-24866C>T
c.1214-24866C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78806840
chr5:78806841 C
C
 A
A
 1 a0001c0005t0013g0004
a0001c0005t0013g0004
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.1214-24867G>T
c.1214-24867G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78806841
chr5:78807136 A
A
 T
T
 1 a0002c0002t0030g0304
a0002c0002t0030g0304
 1 NA19068.hp2
NA19068.hp2
 intron_variant MODIFIER c.1214-25162T>A
c.1214-25162T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78807136
chr5:78807142 A
A
 G
G
 32 a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0200
others(29): Show 
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0195
a0001c0001t0008g0040
a0001c0001t0008g0223
a0001c0001t0008g0297
a0001c0001t0010g0141
a0001c0001t0014g0199
a0001c0001t0020g0028
a0001c0003t0005g0060
a0001c0003t0014g0220
a0001c0003t0060g0210
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0179
a0002c0002t0002g0314
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0340
a0002c0002t0012g0228
a0002c0002t0014g0106
a0002c0002t0026g0176
a0002c0002t0055g0094
 32 HG00280.hp1
HG00544.hp1
HG00544.hp2
others(29): Show 
HG00280.hp1
HG00544.hp1
HG00544.hp2
HG00621.hp1
HG00738.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01257.hp1
HG01346.hp1
HG01978.hp2
HG02040.hp1
HG02056.hp2
HG02074.hp2
HG02615.hp1
HG02683.hp2
HG02717.hp2
HG03669.hp2
NA18942.hp1
NA18946.hp2
NA18969.hp1
NA18978.hp1
NA18988.hp1
NA19009.hp1
NA19010.hp2
NA19063.hp2
NA19066.hp1
NA19068.hp1
NA19088.hp1
NA20300.hp2
 intron_variant MODIFIER c.1214-25168T>C
c.1214-25168T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78807142
chr5:78807338 T
T
 C
C
 5 a0001c0001t0007g0115
a0001c0003t0006g0254
a0001c0003t0012g0350
others(2): Show 
a0001c0001t0007g0115
a0001c0003t0006g0254
a0001c0003t0012g0350
a0001c0009t0016g0271
a0001c0009t0016g0272
 5 HG01891.hp2
HG02647.hp1
HG02809.hp1
others(2): Show 
HG01891.hp2
HG02647.hp1
HG02809.hp1
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.1214-25364A>G
c.1214-25364A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78807338
chr5:78807460 G
G
 A
A
 1 a0001c0001t0001g0035
a0001c0001t0001g0035
 1 NA18957.hp1
NA18957.hp1
 intron_variant MODIFIER c.1214-25486C>T
c.1214-25486C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78807460
chr5:78807782 C
C
 T
T
 75 a0001c0001t0001g0135
a0001c0001t0001g0321
a0001c0001t0002g0005
others(72): Show 
a0001c0001t0001g0135
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0277
a0001c0001t0003g0021
a0001c0001t0003g0159
a0001c0001t0004g0009
a0001c0001t0004g0058
a0001c0001t0004g0278
a0001c0001t0005g0041
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0008g0279
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0018g0130
a0001c0001t0024g0182
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0065g0017
a0001c0003t0002g0082
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0025g0341
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0056g0022
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0022t0006g0359
a0002c0002t0003g0129
a0002c0002t0006g0014
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0064g0285
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0002g0243
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0049g0139
a0004c0006t0024g0061
a0004c0006t0024g0175
 75 HG00423.hp2
HG00438.hp2
HG00558.hp1
others(72): Show 
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00673.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01258.hp1
HG01361.hp2
HG01496.hp1
HG01884.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02027.hp1
HG02040.hp2
HG02055.hp1
HG02109.hp1
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02723.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03834.hp1
HG03942.hp2
HG04184.hp1
NA18747.hp2
NA18906.hp2
NA18972.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19066.hp2
NA19074.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.1214-25808G>A
c.1214-25808G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78807782
chr5:78807825 G
G
 A
A
 5 a0001c0001t0007g0115
a0001c0003t0006g0254
a0001c0003t0012g0350
others(2): Show 
a0001c0001t0007g0115
a0001c0003t0006g0254
a0001c0003t0012g0350
a0001c0009t0016g0271
a0001c0009t0016g0272
 5 HG01891.hp2
HG02647.hp1
HG02809.hp1
others(2): Show 
HG01891.hp2
HG02647.hp1
HG02809.hp1
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.1214-25851C>T
c.1214-25851C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78807825
chr5:78807869 G
G
 A
A
 29 a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0005g0075
others(26): Show 
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0195
a0001c0001t0008g0040
a0001c0001t0008g0223
a0001c0001t0008g0297
a0001c0001t0010g0141
a0001c0001t0014g0199
a0001c0001t0020g0028
a0001c0003t0005g0060
a0001c0003t0014g0220
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0179
a0002c0002t0002g0314
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0012g0228
a0002c0002t0014g0106
a0002c0002t0026g0176
a0002c0002t0055g0094
 29 HG00280.hp1
HG00544.hp1
HG00621.hp1
others(26): Show 
HG00280.hp1
HG00544.hp1
HG00621.hp1
HG00738.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01257.hp1
HG01346.hp1
HG01978.hp2
HG02040.hp1
HG02056.hp2
HG02074.hp2
HG02615.hp1
HG02683.hp2
HG02717.hp2
HG03669.hp2
NA18942.hp1
NA18946.hp2
NA18978.hp1
NA18988.hp1
NA19009.hp1
NA19010.hp2
NA19063.hp2
NA19068.hp1
NA19088.hp1
NA20300.hp2
 intron_variant MODIFIER c.1214-25895C>T
c.1214-25895C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78807869
chr5:78807910 G
G
 A
A
 28 a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
others(25): Show 
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0195
a0001c0001t0008g0040
a0001c0001t0008g0223
a0001c0001t0008g0297
a0001c0001t0010g0141
a0001c0001t0014g0199
a0001c0001t0020g0028
a0001c0003t0005g0060
a0001c0003t0014g0220
a0001c0003t0060g0210
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0179
a0002c0002t0002g0314
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0012g0228
a0002c0002t0014g0106
a0002c0002t0026g0176
a0002c0002t0055g0094
 28 HG00280.hp1
HG00544.hp1
HG00544.hp2
others(25): Show 
HG00280.hp1
HG00544.hp1
HG00544.hp2
HG00621.hp1
HG00738.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01257.hp1
HG01346.hp1
HG01978.hp2
HG02040.hp1
HG02056.hp2
HG02074.hp2
HG02615.hp1
HG02683.hp2
HG02717.hp2
HG03669.hp2
NA18942.hp1
NA18978.hp1
NA18988.hp1
NA19009.hp1
NA19010.hp2
NA19068.hp1
NA19088.hp1
NA20300.hp2
 intron_variant MODIFIER c.1214-25936C>T
c.1214-25936C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78807910
chr5:78807961 C
C
 T
T
 2 a0001c0003t0002g0276
a0001c0022t0006g0359
a0001c0003t0002g0276
a0001c0022t0006g0359
 2 HG02559.hp1
NA19043.hp2
HG02559.hp1
NA19043.hp2
 intron_variant MODIFIER c.1214-25987G>A
c.1214-25987G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78807961
chr5:78807965 C
C
 T
T
 2 a0001c0003t0070g0251
a0002c0002t0006g0014
a0001c0003t0070g0251
a0002c0002t0006g0014
 2 HG02896.hp1
HG02965.hp2
HG02896.hp1
HG02965.hp2
 intron_variant MODIFIER c.1214-25991G>A
c.1214-25991G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78807965
chr5:78807976 C
C
 T
T
 3 a0001c0001t0002g0261
a0001c0003t0002g0269
a0001c0005t0013g0004
a0001c0001t0002g0261
a0001c0003t0002g0269
a0001c0005t0013g0004
 3 HG02717.hp1
HG03041.hp1
NA19240.hp2
HG02717.hp1
HG03041.hp1
NA19240.hp2
 intron_variant MODIFIER c.1214-26002G>A
c.1214-26002G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78807976
chr5:78808010 G
G
 A
A
 47 a0001c0001t0001g0135
a0001c0001t0004g0009
a0001c0001t0004g0058
others(44): Show 
a0001c0001t0001g0135
a0001c0001t0004g0009
a0001c0001t0004g0058
a0001c0001t0004g0278
a0001c0001t0005g0041
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0008g0279
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0018g0130
a0001c0001t0024g0182
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0002g0082
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0008g0116
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0025g0341
a0001c0003t0031g0119
a0001c0003t0056g0022
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0007t0068g0111
a0001c0007t0077g0070
a0002c0002t0003g0129
a0002c0002t0006g0014
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0064g0285
a0002c0013t0017g0015
a0004c0006t0024g0061
a0004c0006t0024g0175
 47 HG00423.hp2
HG00438.hp2
HG00558.hp1
others(44): Show 
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00741.hp1
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01258.hp1
HG01361.hp2
HG01496.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02027.hp1
HG02109.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02622.hp2
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03486.hp1
HG03540.hp1
HG03834.hp1
HG03942.hp2
NA18747.hp2
NA19030.hp1
NA20805.hp2
 intron_variant MODIFIER c.1214-26036C>T
c.1214-26036C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78808010
chr5:78808018 G
G
 A
A
 47 a0001c0001t0001g0135
a0001c0001t0004g0009
a0001c0001t0004g0058
others(44): Show 
a0001c0001t0001g0135
a0001c0001t0004g0009
a0001c0001t0004g0058
a0001c0001t0004g0278
a0001c0001t0005g0041
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0008g0279
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0018g0130
a0001c0001t0024g0182
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0002g0082
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0008g0116
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0025g0341
a0001c0003t0031g0119
a0001c0003t0056g0022
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0007t0068g0111
a0001c0007t0077g0070
a0002c0002t0003g0129
a0002c0002t0006g0014
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0064g0285
a0002c0013t0017g0015
a0004c0006t0024g0061
a0004c0006t0024g0175
 47 HG00423.hp2
HG00438.hp2
HG00558.hp1
others(44): Show 
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00741.hp1
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01258.hp1
HG01361.hp2
HG01496.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02027.hp1
HG02109.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02622.hp2
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03486.hp1
HG03540.hp1
HG03834.hp1
HG03942.hp2
NA18747.hp2
NA19030.hp1
NA20805.hp2
 intron_variant MODIFIER c.1214-26044C>T
c.1214-26044C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78808018
chr5:78808019 G
G
 A
A
 47 a0001c0001t0001g0135
a0001c0001t0004g0009
a0001c0001t0004g0058
others(44): Show 
a0001c0001t0001g0135
a0001c0001t0004g0009
a0001c0001t0004g0058
a0001c0001t0004g0278
a0001c0001t0005g0041
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0008g0279
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0018g0130
a0001c0001t0024g0182
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0002g0082
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0008g0116
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0025g0341
a0001c0003t0031g0119
a0001c0003t0056g0022
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0007t0068g0111
a0001c0007t0077g0070
a0002c0002t0003g0129
a0002c0002t0006g0014
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0064g0285
a0002c0013t0017g0015
a0004c0006t0024g0061
a0004c0006t0024g0175
 47 HG00423.hp2
HG00438.hp2
HG00558.hp1
others(44): Show 
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00741.hp1
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01258.hp1
HG01361.hp2
HG01496.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02027.hp1
HG02109.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02622.hp2
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03486.hp1
HG03540.hp1
HG03834.hp1
HG03942.hp2
NA18747.hp2
NA19030.hp1
NA20805.hp2
 intron_variant MODIFIER c.1214-26045C>T
c.1214-26045C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78808019
chr5:78808023 G
G
 A
A
 78 a0001c0001t0001g0135
a0001c0001t0001g0321
a0001c0001t0002g0005
others(75): Show 
a0001c0001t0001g0135
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0003g0021
a0001c0001t0003g0159
a0001c0001t0004g0009
a0001c0001t0004g0058
a0001c0001t0004g0278
a0001c0001t0005g0041
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0008g0279
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0018g0130
a0001c0001t0024g0182
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0065g0017
a0001c0003t0002g0082
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0025g0341
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0056g0022
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0022t0006g0359
a0002c0002t0003g0129
a0002c0002t0006g0014
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0064g0285
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0002g0243
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0049g0139
a0004c0006t0024g0061
a0004c0006t0024g0175
 78 HG00423.hp2
HG00438.hp2
HG00558.hp1
others(75): Show 
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00673.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01258.hp1
HG01361.hp2
HG01496.hp1
HG01884.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02027.hp1
HG02040.hp2
HG02055.hp1
HG02109.hp1
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02717.hp1
HG02723.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03834.hp1
HG03942.hp2
HG04184.hp1
NA18747.hp2
NA18906.hp2
NA18972.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19066.hp2
NA19074.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.1214-26049C>T
c.1214-26049C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78808023
chr5:78808025 G
G
 C
C
 3 a0001c0001t0002g0261
a0001c0003t0002g0269
a0001c0005t0013g0004
a0001c0001t0002g0261
a0001c0003t0002g0269
a0001c0005t0013g0004
 3 HG02717.hp1
HG03041.hp1
NA19240.hp2
HG02717.hp1
HG03041.hp1
NA19240.hp2
 intron_variant MODIFIER c.1214-26051C>G
c.1214-26051C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78808025
chr5:78808042 G
G
 T
T
 1 a0001c0003t0035g0357
a0001c0003t0035g0357
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1214-26068C>A
c.1214-26068C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78808042
chr5:78808048 C
C
 A
A
 2 a0001c0003t0002g0276
a0001c0022t0006g0359
a0001c0003t0002g0276
a0001c0022t0006g0359
 2 HG02559.hp1
NA19043.hp2
HG02559.hp1
NA19043.hp2
 intron_variant MODIFIER c.1214-26074G>T
c.1214-26074G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78808048
chr5:78808048 C
C
 G
G
 76 a0001c0001t0001g0135
a0001c0001t0001g0321
a0001c0001t0002g0005
others(73): Show 
a0001c0001t0001g0135
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0003g0021
a0001c0001t0003g0159
a0001c0001t0004g0009
a0001c0001t0004g0058
a0001c0001t0004g0278
a0001c0001t0005g0041
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0008g0279
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0018g0130
a0001c0001t0024g0182
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0065g0017
a0001c0003t0002g0082
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0025g0341
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0056g0022
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0068g0111
a0001c0007t0077g0070
a0002c0002t0003g0129
a0002c0002t0006g0014
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0064g0285
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0002g0243
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0049g0139
a0004c0006t0024g0061
a0004c0006t0024g0175
 76 HG00423.hp2
HG00438.hp2
HG00558.hp1
others(73): Show 
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00673.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01258.hp1
HG01361.hp2
HG01496.hp1
HG01884.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02027.hp1
HG02040.hp2
HG02055.hp1
HG02109.hp1
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02717.hp1
HG02723.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03834.hp1
HG03942.hp2
HG04184.hp1
NA18747.hp2
NA18906.hp2
NA18972.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19066.hp2
NA19074.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.1214-26074G>C
c.1214-26074G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78808048
chr5:78808090 CTCA
CTCA
 C
C
 3 a0001c0001t0002g0277
a0001c0001t0003g0021
a0001c0003t0022g0178
a0001c0001t0002g0277
a0001c0001t0003g0021
a0001c0003t0022g0178
 3 HG03453.hp2
HG03471.hp2
NA18972.hp1
HG03453.hp2
HG03471.hp2
NA18972.hp1
 intron_variant MODIFIER c.1214-26119_1214-26
others(9): Show 
c.1214-26119_1214-26117delTGA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78808090
chr5:78808090 CTCAA
CTCAA
 C
C
 17 a0001c0001t0001g0321
a0001c0001t0003g0159
a0001c0001t0065g0017
others(14): Show 
a0001c0001t0001g0321
a0001c0001t0003g0159
a0001c0001t0065g0017
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0018g0057
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0076g0268
a0002c0002t0023g0162
a0002c0011t0053g0002
a0003c0004t0002g0243
a0003c0004t0023g0148
a0003c0004t0023g0151
 17 HG00673.hp2
HG00738.hp2
HG01070.hp1
others(14): Show 
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01109.hp2
HG01884.hp1
HG02040.hp2
HG02055.hp1
HG02451.hp1
HG02622.hp1
HG04184.hp1
NA18906.hp2
NA19030.hp2
NA19066.hp2
NA19074.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
 intron_variant MODIFIER c.1214-26120_1214-26
others(10): Show 
c.1214-26120_1214-26117delTTGA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78808090
chr5:78808092 C
C
 CA
CA
 38 a0001c0001t0001g0023
a0001c0001t0001g0035
a0001c0001t0001g0084
others(35): Show 
a0001c0001t0001g0023
a0001c0001t0001g0035
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0289
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0003g0140
a0001c0001t0004g0330
a0001c0001t0005g0075
a0001c0001t0005g0077
a0001c0001t0005g0195
a0001c0001t0008g0065
a0001c0001t0008g0223
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0011g0242
a0001c0001t0014g0199
a0001c0001t0037g0059
a0001c0003t0002g0320
a0001c0003t0005g0060
a0001c0003t0007g0132
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0345
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0314
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0004g0096
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0055g0094
a0002c0002t0066g0355
a0003c0004t0004g0150
 38 HG00280.hp1
HG00438.hp1
HG00544.hp1
others(35): Show 
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00621.hp1
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01175.hp1
HG01192.hp1
HG01257.hp1
HG01346.hp1
HG01433.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp2
HG02129.hp2
HG02683.hp2
HG02698.hp1
HG02738.hp2
HG03669.hp2
HG03710.hp1
HG03710.hp2
NA18957.hp1
NA18969.hp1
NA18988.hp1
NA18988.hp2
NA18994.hp2
NA18995.hp1
NA19001.hp1
NA19010.hp2
NA19063.hp2
 intron_variant MODIFIER c.1214-26119dupT
c.1214-26119dupT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78808092
chr5:78808092 C
C
 CAA
CAA
 13 a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0008g0040
others(10): Show 
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0008g0040
a0001c0001t0010g0141
a0001c0001t0020g0028
a0001c0001t0059g0332
a0001c0003t0014g0220
a0001c0003t0060g0210
a0002c0002t0001g0310
a0002c0002t0005g0192
a0002c0002t0012g0228
a0002c0002t0014g0106
a0002c0002t0026g0176
 13 HG00544.hp2
HG01978.hp2
HG02056.hp2
others(10): Show 
HG00544.hp2
HG01978.hp2
HG02056.hp2
HG02074.hp1
HG02074.hp2
NA18942.hp1
NA18946.hp2
NA18978.hp1
NA19009.hp1
NA19066.hp1
NA19068.hp1
NA19088.hp1
NA20300.hp2
 intron_variant MODIFIER c.1214-26120_1214-26
others(8): Show 
c.1214-26120_1214-26119dupTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78808092
chr5:78808092 CA
CA
 C
C
 88 a0001c0001t0001g0263
a0001c0001t0001g0305
a0001c0001t0002g0092
others(85): Show 
a0001c0001t0001g0263
a0001c0001t0001g0305
a0001c0001t0002g0092
a0001c0001t0003g0019
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0190
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0011g0046
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0034g0072
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0334
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0229
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0034g0071
a0001c0003t0041g0155
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0002c0002t0002g0186
a0002c0002t0002g0312
a0002c0002t0003g0025
a0002c0002t0003g0137
a0002c0002t0003g0246
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0005g0241
a0002c0002t0006g0126
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0294
a0002c0002t0008g0311
a0002c0002t0009g0136
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0019g0052
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0063g0198
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0007g0152
a0003c0004t0014g0164
a0003c0004t0054g0142
a0003c0004t0062g0133
a0004c0006t0016g0163
a0004c0006t0016g0221
a0007c0012t0032g0180
 88 HG00323.hp1
HG00323.hp2
HG00642.hp1
others(85): Show 
HG00323.hp1
HG00323.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp2
HG01993.hp2
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02135.hp2
HG02155.hp1
HG02258.hp2
HG02280.hp1
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02976.hp1
HG03017.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG04115.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18941.hp2
NA18943.hp1
NA18947.hp2
NA18948.hp1
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18968.hp2
NA18986.hp1
NA18986.hp2
NA18994.hp1
NA19004.hp1
NA19057.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19068.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1214-26119delT
c.1214-26119delT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78808092
chr5:78808092 CAAAA
CAAAA
 C
C
 11 a0001c0001t0002g0261
a0001c0001t0004g0058
a0001c0003t0002g0253
others(8): Show 
a0001c0001t0002g0261
a0001c0001t0004g0058
a0001c0003t0002g0253
a0001c0003t0002g0269
a0001c0003t0002g0354
a0001c0003t0006g0156
a0001c0003t0031g0119
a0001c0005t0013g0004
a0002c0002t0025g0213
a0002c0002t0042g0224
a0003c0004t0049g0139
 11 HG00423.hp2
HG02027.hp1
HG02258.hp1
others(8): Show 
HG00423.hp2
HG02027.hp1
HG02258.hp1
HG02572.hp1
HG02647.hp2
HG02717.hp1
HG03041.hp1
HG03098.hp1
HG03486.hp1
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.1214-26122_1214-26
others(10): Show 
c.1214-26122_1214-26119delTTTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78808092
chr5:78808092 CAAAAA
CAAAAA
 C
C
 46 a0001c0001t0001g0135
a0001c0001t0004g0009
a0001c0001t0004g0278
others(43): Show 
a0001c0001t0001g0135
a0001c0001t0004g0009
a0001c0001t0004g0278
a0001c0001t0005g0041
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0008g0279
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0018g0130
a0001c0001t0024g0182
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0002g0082
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0006g0103
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0025g0341
a0001c0003t0035g0357
a0001c0003t0056g0022
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0022t0006g0359
a0002c0002t0003g0129
a0002c0002t0006g0014
a0002c0002t0026g0086
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0064g0285
a0002c0013t0017g0015
a0004c0006t0024g0061
a0004c0006t0024g0175
 46 HG00438.hp2
HG00558.hp1
HG00741.hp1
others(43): Show 
HG00438.hp2
HG00558.hp1
HG00741.hp1
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01258.hp1
HG01361.hp2
HG01496.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02109.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02622.hp2
HG02723.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03540.hp1
HG03834.hp1
HG03942.hp2
NA18747.hp2
NA19030.hp1
NA19043.hp2
NA20805.hp2
 intron_variant MODIFIER c.1214-26123_1214-26
others(11): Show 
c.1214-26123_1214-26119delTTTTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78808092
chr5:78808095 A
A
 C
C
 3 a0001c0001t0002g0277
a0001c0001t0003g0021
a0001c0003t0022g0178
a0001c0001t0002g0277
a0001c0001t0003g0021
a0001c0003t0022g0178
 3 HG03453.hp2
HG03471.hp2
NA18972.hp1
HG03453.hp2
HG03471.hp2
NA18972.hp1
 intron_variant MODIFIER c.1214-26121T>G
c.1214-26121T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78808095
chr5:78808096 A
A
 C
C
 17 a0001c0001t0001g0321
a0001c0001t0003g0159
a0001c0001t0065g0017
others(14): Show 
a0001c0001t0001g0321
a0001c0001t0003g0159
a0001c0001t0065g0017
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0018g0057
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0076g0268
a0002c0002t0023g0162
a0002c0011t0053g0002
a0003c0004t0002g0243
a0003c0004t0023g0148
a0003c0004t0023g0151
 17 HG00673.hp2
HG00738.hp2
HG01070.hp1
others(14): Show 
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01109.hp2
HG01884.hp1
HG02040.hp2
HG02055.hp1
HG02451.hp1
HG02622.hp1
HG04184.hp1
NA18906.hp2
NA19030.hp2
NA19066.hp2
NA19074.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
 intron_variant MODIFIER c.1214-26122T>G
c.1214-26122T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78808096
chr5:78808097 A
A
 C
C
 1 a0001c0001t0002g0005
a0001c0001t0002g0005
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.1214-26123T>G
c.1214-26123T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78808097
chr5:78808109 A
A
 C
C
 1 a0002c0002t0071g0280
a0002c0002t0071g0280
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.1214-26135T>G
c.1214-26135T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78808109
chr5:78808266 C
C
 T
T
 1 a0001c0001t0039g0291
a0001c0001t0039g0291
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.1214-26292G>A
c.1214-26292G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78808266
chr5:78808567 C
C
 T
T
 1 a0001c0003t0002g0160
a0001c0003t0002g0160
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.1214-26593G>A
c.1214-26593G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78808567
chr5:78808806 T
T
 C
C
 1 a0001c0001t0002g0005
a0001c0001t0002g0005
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.1214-26832A>G
c.1214-26832A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78808806
chr5:78808967 T
T
 C
C
 1 a0001c0001t0037g0059
a0001c0001t0037g0059
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.1214-26993A>G
c.1214-26993A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78808967
chr5:78809026 T
T
 G
G
 2 a0001c0003t0012g0177
a0001c0003t0028g0348
a0001c0003t0012g0177
a0001c0003t0028g0348
 2 HG01891.hp1
HG03225.hp2
HG01891.hp1
HG03225.hp2
 intron_variant MODIFIER c.1214-27052A>C
c.1214-27052A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78809026
chr5:78809193 C
C
 T
T
 1 a0001c0003t0007g0352
a0001c0003t0007g0352
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.1214-27219G>A
c.1214-27219G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78809193
chr5:78809264 A
A
 C
C
 104 a0001c0001t0001g0135
a0001c0001t0001g0321
a0001c0001t0002g0005
others(101): Show 
a0001c0001t0001g0135
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0003g0021
a0001c0001t0003g0159
a0001c0001t0003g0301
a0001c0001t0004g0009
a0001c0001t0004g0058
a0001c0001t0004g0278
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0195
a0001c0001t0005g0235
a0001c0001t0007g0115
a0001c0001t0008g0040
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0297
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0028
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0065g0017
a0001c0003t0002g0082
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0022t0006g0359
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0179
a0002c0002t0002g0314
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0006g0014
a0002c0002t0012g0228
a0002c0002t0014g0106
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0176
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0002g0243
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0049g0139
 104 HG00280.hp1
HG00423.hp2
HG00438.hp2
others(101): Show 
HG00280.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00621.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01243.hp2
HG01257.hp1
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01891.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03669.hp2
HG04184.hp1
NA18747.hp2
NA18906.hp2
NA18942.hp1
NA18946.hp2
NA18948.hp2
NA18972.hp1
NA18978.hp1
NA18988.hp1
NA19009.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1214-27290T>G
c.1214-27290T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78809264
chr5:78809365 A
A
 G
G
 1 a0001c0001t0001g0134
a0001c0001t0001g0134
 1 NA18984.hp1
NA18984.hp1
 intron_variant MODIFIER c.1214-27391T>C
c.1214-27391T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78809365
chr5:78809426 A
A
 G
G
 1 a0003c0004t0062g0133
a0003c0004t0062g0133
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.1214-27452T>C
c.1214-27452T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78809426
chr5:78809476 G
G
 A
A
 9 a0001c0001t0002g0005
a0001c0001t0003g0159
a0001c0003t0012g0166
others(6): Show 
a0001c0001t0002g0005
a0001c0001t0003g0159
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0076g0268
 9 HG01109.hp2
HG01884.hp1
HG02055.hp1
others(6): Show 
HG01109.hp2
HG01884.hp1
HG02055.hp1
HG02451.hp1
HG02622.hp1
NA18906.hp2
NA19030.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.1214-27502C>T
c.1214-27502C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78809476
chr5:78809503 C
C
 G
G
 42 a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0200
others(39): Show 
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0002g0261
a0001c0001t0004g0058
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0195
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0297
a0001c0001t0010g0141
a0001c0001t0014g0199
a0001c0001t0020g0028
a0001c0003t0002g0082
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0008g0116
a0001c0003t0018g0260
a0001c0003t0031g0119
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0005t0013g0004
a0001c0007t0068g0111
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0179
a0002c0002t0002g0314
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0012g0228
a0002c0002t0014g0106
a0002c0002t0026g0176
a0002c0002t0055g0094
 42 HG00280.hp1
HG00544.hp1
HG00544.hp2
others(39): Show 
HG00280.hp1
HG00544.hp1
HG00544.hp2
HG00621.hp1
HG00738.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01243.hp2
HG01257.hp1
HG01346.hp1
HG01978.hp2
HG02040.hp1
HG02074.hp2
HG02109.hp1
HG02280.hp2
HG02572.hp1
HG02683.hp2
HG02717.hp1
HG02818.hp2
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03209.hp1
HG03486.hp1
HG03669.hp2
NA18946.hp2
NA18978.hp1
NA18988.hp1
NA19009.hp1
NA19010.hp2
NA19063.hp2
NA19066.hp1
NA19068.hp1
NA19088.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.1214-27529G>C
c.1214-27529G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78809503
chr5:78809524 C
C
 T
T
 95 a0001c0001t0001g0135
a0001c0001t0001g0321
a0001c0001t0002g0005
others(92): Show 
a0001c0001t0001g0135
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0003g0021
a0001c0001t0003g0159
a0001c0001t0004g0009
a0001c0001t0004g0058
a0001c0001t0004g0278
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0195
a0001c0001t0005g0235
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0297
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0028
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0065g0017
a0001c0003t0002g0082
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0022t0006g0359
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0179
a0002c0002t0002g0314
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0006g0014
a0002c0002t0012g0228
a0002c0002t0014g0106
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0176
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0002g0243
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0049g0139
 95 HG00280.hp1
HG00423.hp2
HG00438.hp2
others(92): Show 
HG00280.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00621.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01243.hp2
HG01257.hp1
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03540.hp1
HG03669.hp2
HG04184.hp1
NA18747.hp2
NA18906.hp2
NA18946.hp2
NA18972.hp1
NA18978.hp1
NA18988.hp1
NA19009.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.1214-27550G>A
c.1214-27550G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78809524
chr5:78809539 G
G
 A
A
 1 a0001c0001t0010g0029
a0001c0001t0010g0029
 1 NA19057.hp1
NA19057.hp1
 intron_variant MODIFIER c.1214-27565C>T
c.1214-27565C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78809539
chr5:78809662 G
G
 A
A
 2 a0001c0001t0002g0092
a0001c0003t0002g0101
a0001c0001t0002g0092
a0001c0003t0002g0101
 2 HG03139.hp2
HG03516.hp1
HG03139.hp2
HG03516.hp1
 intron_variant MODIFIER c.1214-27688C>T
c.1214-27688C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78809662
chr5:78809771 C
C
 T
T
 9 a0001c0001t0007g0250
a0001c0001t0034g0072
a0001c0003t0002g0276
others(6): Show 
a0001c0001t0007g0250
a0001c0001t0034g0072
a0001c0003t0002g0276
a0001c0003t0012g0350
a0001c0003t0028g0051
a0001c0003t0034g0071
a0001c0003t0048g0266
a0001c0005t0032g0117
a0001c0022t0006g0359
 9 HG01243.hp1
HG02559.hp1
HG02647.hp1
others(6): Show 
HG01243.hp1
HG02559.hp1
HG02647.hp1
HG02818.hp1
HG02965.hp1
HG03139.hp1
HG03486.hp2
NA18906.hp1
NA19043.hp2
 intron_variant MODIFIER c.1214-27797G>A
c.1214-27797G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78809771
chr5:78809793 G
G
 A
A
 1 a0001c0003t0060g0210
a0001c0003t0060g0210
 1 HG00544.hp2
HG00544.hp2
 intron_variant MODIFIER c.1214-27819C>T
c.1214-27819C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78809793
chr5:78809904 G
G
 T
T
 3 a0002c0002t0023g0162
a0003c0004t0023g0148
a0003c0004t0023g0151
a0002c0002t0023g0162
a0003c0004t0023g0148
a0003c0004t0023g0151
 3 HG00738.hp2
HG01070.hp1
NA20805.hp1
HG00738.hp2
HG01070.hp1
NA20805.hp1
 intron_variant MODIFIER c.1214-27930C>A
c.1214-27930C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78809904
chr5:78810111 G
G
 A
A
 1 a0002c0002t0005g0192
a0002c0002t0005g0192
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.1214-28137C>T
c.1214-28137C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78810111
chr5:78810189 T
T
 A
A
 1 a0001c0001t0008g0113
a0001c0001t0008g0113
 1 HG01993.hp1
HG01993.hp1
 intron_variant MODIFIER c.1214-28215A>T
c.1214-28215A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78810189
chr5:78810239 G
G
 A
A
 45 a0001c0001t0001g0236
a0001c0001t0001g0265
a0001c0001t0001g0289
others(42): Show 
a0001c0001t0001g0236
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0335
a0001c0001t0007g0181
a0001c0001t0009g0226
a0001c0001t0010g0244
a0001c0001t0013g0227
a0001c0001t0014g0189
a0001c0001t0020g0290
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0003t0001g0326
a0001c0003t0010g0157
a0001c0003t0015g0346
a0001c0003t0046g0343
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0299
a0002c0002t0002g0312
a0002c0002t0003g0068
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0325
a0002c0002t0006g0191
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0309
a0002c0002t0030g0304
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0066g0355
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0004g0122
a0003c0004t0012g0123
a0003c0014t0015g0202
 46 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(43): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00558.hp2
HG00741.hp2
HG01069.hp1
HG01175.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01433.hp2
HG01515.hp2
HG01952.hp2
HG01975.hp2
HG01981.hp2
HG02293.hp1
HG02698.hp1
HG02735.hp2
HG02738.hp2
HG03490.hp1
HG03491.hp1
HG03654.hp1
HG03654.hp2
HG03942.hp1
HG04199.hp1
NA18612.hp2
NA18747.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18949.hp1
NA18951.hp2
NA18970.hp1
NA18975.hp1
NA18975.hp2
NA18985.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19068.hp2
NA19077.hp2
NA19084.hp2
NA20752.hp1
 intron_variant MODIFIER c.1214-28265C>T
c.1214-28265C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78810239
chr5:78810333 A
A
 G
G
 1 a0001c0001t0001g0062
a0001c0001t0001g0062
 1 NA19004.hp2
NA19004.hp2
 intron_variant MODIFIER c.1214-28359T>C
c.1214-28359T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78810333
chr5:78810548 T
T
 C
C
 64 a0001c0001t0001g0135
a0001c0001t0002g0005
a0001c0001t0002g0143
others(61): Show 
a0001c0001t0001g0135
a0001c0001t0002g0005
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0002g0277
a0001c0001t0003g0159
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0005g0041
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0008g0223
a0001c0001t0008g0297
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0021g0173
a0001c0001t0021g0347
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0051g0239
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0276
a0001c0003t0003g0050
a0001c0003t0005g0060
a0001c0003t0006g0254
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0036g0259
a0001c0007t0077g0070
a0001c0019t0022g0233
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0179
a0002c0002t0002g0314
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0012g0228
a0002c0002t0014g0106
a0002c0002t0026g0176
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0013t0017g0015
a0003c0004t0049g0139
 64 HG00280.hp1
HG00423.hp2
HG00438.hp2
others(61): Show 
HG00280.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00741.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01167.hp1
HG01243.hp1
HG01496.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG02040.hp1
HG02074.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp2
HG02723.hp1
HG02809.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03195.hp1
HG03225.hp1
HG03453.hp2
HG03486.hp2
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18943.hp2
NA18946.hp2
NA18963.hp1
NA18968.hp2
NA18969.hp2
NA18978.hp1
NA18988.hp1
NA18994.hp1
NA19000.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19063.hp2
NA19068.hp1
NA19088.hp1
NA20129.hp2
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1214-28574A>G
c.1214-28574A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78810548
chr5:78810628 T
T
 C
C
 1 a0001c0001t0004g0020
a0001c0001t0004g0020
 1 NA19011.hp1
NA19011.hp1
 intron_variant MODIFIER c.1214-28654A>G
c.1214-28654A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78810628
chr5:78810652 A
A
 G
G
 1 a0001c0001t0008g0036
a0001c0001t0008g0036
 1 NA18962.hp2
NA18962.hp2
 intron_variant MODIFIER c.1214-28678T>C
c.1214-28678T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78810652
chr5:78810689 C
C
 T
T
 1 a0001c0001t0003g0327
a0001c0001t0003g0327
 1 HG00621.hp2
HG00621.hp2
 intron_variant MODIFIER c.1213+28667G>A
c.1213+28667G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78810689
chr5:78810891 A
A
 G
G
 5 a0001c0003t0002g0269
a0001c0003t0002g0354
a0001c0003t0028g0348
others(2): Show 
a0001c0003t0002g0269
a0001c0003t0002g0354
a0001c0003t0028g0348
a0001c0007t0077g0070
a0002c0002t0052g0098
 5 HG01167.hp1
HG01891.hp1
HG02258.hp1
others(2): Show 
HG01167.hp1
HG01891.hp1
HG02258.hp1
HG03041.hp1
HG03225.hp1
 intron_variant MODIFIER c.1213+28465T>C
c.1213+28465T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78810891
chr5:78810967 T
T
 C
C
 1 a0001c0001t0004g0009
a0001c0001t0004g0009
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.1213+28389A>G
c.1213+28389A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78810967
chr5:78811185 G
G
 A
A
 6 a0001c0003t0002g0013
a0001c0003t0002g0349
a0001c0003t0002g0351
others(3): Show 
a0001c0003t0002g0013
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0007g0352
a0001c0003t0027g0114
a0001c0015t0027g0102
 6 HG00733.hp1
HG01168.hp2
HG02055.hp2
others(3): Show 
HG00733.hp1
HG01168.hp2
HG02055.hp2
HG02572.hp2
HG03195.hp2
HG03453.hp1
 intron_variant MODIFIER c.1213+28171C>T
c.1213+28171C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78811185
chr5:78811231 T
T
 C
C
 1 a0001c0022t0006g0359
a0001c0022t0006g0359
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.1213+28125A>G
c.1213+28125A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78811231
chr5:78811251 T
T
 C
C
 2 a0001c0001t0004g0278
a0001c0007t0068g0111
a0001c0001t0004g0278
a0001c0007t0068g0111
 2 HG02622.hp2
HG02976.hp2
HG02622.hp2
HG02976.hp2
 intron_variant MODIFIER c.1213+28105A>G
c.1213+28105A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78811251
chr5:78811308 A
A
 G
G
 3 a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
 3 HG02055.hp1
NA18906.hp2
NA19240.hp2
HG02055.hp1
NA18906.hp2
NA19240.hp2
 intron_variant MODIFIER c.1213+28048T>C
c.1213+28048T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78811308
chr5:78811452 C
C
 T
T
 2 a0001c0003t0002g0269
a0001c0003t0028g0348
a0001c0003t0002g0269
a0001c0003t0028g0348
 2 HG01891.hp1
HG03041.hp1
HG01891.hp1
HG03041.hp1
 intron_variant MODIFIER c.1213+27904G>A
c.1213+27904G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78811452
chr5:78811454 A
A
 G
G
 7 a0001c0001t0006g0356
a0001c0003t0006g0267
a0001c0003t0012g0089
others(4): Show 
a0001c0001t0006g0356
a0001c0003t0006g0267
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0073g0099
a0001c0007t0004g0100
a0003c0004t0007g0152
 7 HG02145.hp1
HG02258.hp2
HG02615.hp2
others(4): Show 
HG02145.hp1
HG02258.hp2
HG02615.hp2
HG02886.hp2
HG03225.hp2
HG03516.hp2
HG03540.hp2
 intron_variant MODIFIER c.1213+27902T>C
c.1213+27902T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78811454
chr5:78811656 C
C
 T
T
 24 a0001c0001t0003g0021
a0001c0001t0004g0009
a0001c0001t0004g0278
others(21): Show 
a0001c0001t0003g0021
a0001c0001t0004g0009
a0001c0001t0004g0278
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0018g0130
a0001c0001t0031g0324
a0001c0001t0065g0017
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0022g0178
a0001c0005t0035g0165
a0001c0007t0068g0111
a0001c0018t0002g0016
a0002c0002t0001g0158
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0023g0162
a0002c0011t0053g0002
a0003c0004t0002g0243
a0003c0004t0023g0148
a0003c0004t0023g0151
 24 HG00099.hp1
HG00140.hp2
HG00673.hp2
others(21): Show 
HG00099.hp1
HG00140.hp2
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01109.hp2
HG01884.hp2
HG02040.hp2
HG02109.hp1
HG02559.hp2
HG02622.hp2
HG02698.hp1
HG02809.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03209.hp2
HG03471.hp1
HG03471.hp2
HG04184.hp1
NA18972.hp1
NA19066.hp2
NA20805.hp1
 intron_variant MODIFIER c.1213+27700G>A
c.1213+27700G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78811656
chr5:78811874 A
A
 C
C
 1 a0001c0001t0004g0337
a0001c0001t0004g0337
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.1213+27482T>G
c.1213+27482T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78811874
chr5:78811914 A
A
 G
G
 3 a0001c0001t0002g0104
a0001c0001t0020g0028
a0002c0002t0019g0052
a0001c0001t0002g0104
a0001c0001t0020g0028
a0002c0002t0019g0052
 3 NA18943.hp1
NA19009.hp1
NA19066.hp1
NA18943.hp1
NA19009.hp1
NA19066.hp1
 intron_variant MODIFIER c.1213+27442T>C
c.1213+27442T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78811914
chr5:78811930 T
T
 C
C
 10 a0001c0001t0001g0087
a0001c0001t0001g0135
a0001c0001t0004g0278
others(7): Show 
a0001c0001t0001g0087
a0001c0001t0001g0135
a0001c0001t0004g0278
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0018g0130
a0001c0001t0059g0332
a0001c0007t0068g0111
 10 HG00438.hp2
HG00558.hp1
HG01106.hp2
others(7): Show 
HG00438.hp2
HG00558.hp1
HG01106.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02074.hp1
HG02622.hp2
HG02976.hp2
HG03041.hp2
 intron_variant MODIFIER c.1213+27426A>G
c.1213+27426A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78811930
chr5:78811933 A
A
 AT
AT
 12 a0001c0001t0024g0182
a0001c0003t0001g0344
a0001c0003t0002g0160
others(9): Show 
a0001c0001t0024g0182
a0001c0003t0001g0344
a0001c0003t0002g0160
a0001c0003t0002g0342
a0001c0003t0006g0212
a0001c0003t0025g0341
a0002c0002t0057g0284
a0002c0002t0071g0280
a0003c0004t0062g0133
a0004c0006t0024g0061
a0004c0006t0024g0175
a0007c0012t0032g0180
 12 HG01074.hp1
HG01167.hp2
HG01175.hp2
others(9): Show 
HG01074.hp1
HG01167.hp2
HG01175.hp2
HG01258.hp1
HG01361.hp2
HG01981.hp1
HG02109.hp2
HG02602.hp2
HG02683.hp1
HG04115.hp1
HG04204.hp2
NA20752.hp2
 intron_variant MODIFIER c.1213+27422dupA
c.1213+27422dupA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78811933
chr5:78812085 A
A
 G
G
 43 a0001c0001t0001g0087
a0001c0001t0001g0265
a0001c0001t0001g0289
others(40): Show 
a0001c0001t0001g0087
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0002g0277
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0006g0219
a0001c0001t0007g0181
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0014g0189
a0001c0001t0020g0290
a0001c0001t0025g0316
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0051g0239
a0001c0003t0001g0326
a0001c0003t0003g0334
a0001c0003t0010g0157
a0001c0003t0015g0346
a0001c0003t0022g0229
a0001c0003t0046g0343
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0019t0022g0233
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0336
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0006g0191
a0002c0002t0030g0304
a0002c0002t0038g0006
a0002c0002t0066g0355
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0004g0122
a0003c0004t0012g0123
a0003c0014t0015g0202
 44 HG00140.hp1
HG00738.hp1
HG00741.hp2
others(41): Show 
HG00140.hp1
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01175.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp2
HG01891.hp2
HG01952.hp2
HG01975.hp2
HG01993.hp1
HG02293.hp1
HG02735.hp2
HG02738.hp2
HG03098.hp2
HG03130.hp1
HG03453.hp2
HG03490.hp1
HG03491.hp1
HG03654.hp1
HG03942.hp1
HG04199.hp1
HG04204.hp1
NA18951.hp2
NA18952.hp1
NA18959.hp2
NA18969.hp2
NA18975.hp2
NA19001.hp1
NA19063.hp1
NA19068.hp2
NA19077.hp2
NA19085.hp1
NA19240.hp1
NA20752.hp1
 intron_variant MODIFIER c.1213+27271T>C
c.1213+27271T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78812085
chr5:78812176 A
A
 G
G
 1 a0001c0001t0002g0277
a0001c0001t0002g0277
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.1213+27180T>C
c.1213+27180T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78812176
chr5:78812302 C
C
 T
T
 1 a0001c0001t0003g0327
a0001c0001t0003g0327
 1 HG00621.hp2
HG00621.hp2
 intron_variant MODIFIER c.1213+27054G>A
c.1213+27054G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78812302
chr5:78812584 T
T
 G
G
 3 a0001c0001t0007g0181
a0001c0001t0014g0189
a0001c0003t0015g0346
a0001c0001t0007g0181
a0001c0001t0014g0189
a0001c0003t0015g0346
 3 HG03491.hp1
HG03942.hp1
HG04199.hp1
HG03491.hp1
HG03942.hp1
HG04199.hp1
 intron_variant MODIFIER c.1213+26772A>C
c.1213+26772A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78812584
chr5:78812592 A
A
 AAC
AAC
 10 a0001c0003t0002g0320
a0001c0003t0016g0258
a0001c0003t0056g0022
others(7): Show 
a0001c0003t0002g0320
a0001c0003t0016g0258
a0001c0003t0056g0022
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0002c0002t0026g0086
 10 HG01891.hp2
HG02071.hp1
HG02559.hp2
others(7): Show 
HG01891.hp2
HG02071.hp1
HG02559.hp2
HG02615.hp1
HG02717.hp2
HG03195.hp1
HG03540.hp1
HG03834.hp1
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1213+26762_1213+26
others(8): Show 
c.1213+26762_1213+26763dupGT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78812592
chr5:78812592 A
A
 AACAC
AACAC
 37 a0001c0001t0001g0035
a0001c0001t0001g0236
a0001c0001t0002g0145
others(34): Show 
a0001c0001t0001g0035
a0001c0001t0001g0236
a0001c0001t0002g0145
a0001c0001t0003g0063
a0001c0001t0004g0278
a0001c0001t0004g0330
a0001c0001t0005g0208
a0001c0001t0008g0040
a0001c0001t0011g0046
a0001c0001t0013g0227
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0274
a0001c0003t0012g0177
a0001c0003t0018g0057
a0001c0003t0069g0273
a0001c0005t0074g0073
a0001c0019t0022g0233
a0002c0002t0001g0069
a0002c0002t0001g0287
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0312
a0002c0002t0003g0068
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0206
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0309
a0002c0002t0045g0302
a0002c0002t0057g0284
a0005c0016t0002g0237
 37 HG00438.hp1
HG00558.hp2
HG01175.hp2
others(34): Show 
HG00438.hp1
HG00558.hp2
HG01175.hp2
HG02071.hp2
HG02074.hp2
HG02155.hp1
HG02572.hp1
HG02622.hp2
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG03130.hp1
HG03225.hp2
HG03579.hp1
HG04115.hp1
HG04184.hp2
NA18612.hp2
NA18747.hp1
NA18942.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18957.hp1
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18985.hp2
NA18986.hp1
NA18995.hp1
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19084.hp2
NA20129.hp2
 intron_variant MODIFIER c.1213+26760_1213+26
others(10): Show 
c.1213+26760_1213+26763dupGTGT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78812592
chr5:78812592 A
A
 AACACAC
AACACAC
 72 a0001c0001t0001g0031
a0001c0001t0001g0110
a0001c0001t0001g0134
others(69): Show 
a0001c0001t0001g0031
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0263
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0200
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0064
a0001c0001t0004g0058
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0006g0219
a0001c0001t0007g0333
a0001c0001t0008g0279
a0001c0001t0010g0029
a0001c0001t0010g0264
a0001c0001t0013g0170
a0001c0001t0020g0146
a0001c0001t0034g0072
a0001c0003t0002g0160
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0342
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0350
a0001c0003t0018g0260
a0001c0003t0025g0341
a0001c0003t0034g0071
a0001c0003t0041g0155
a0001c0022t0006g0359
a0002c0002t0002g0125
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0319
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0008g0311
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0013g0216
a0002c0002t0030g0037
a0002c0002t0033g0217
a0002c0002t0052g0098
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0067g0203
a0002c0010t0003g0161
a0002c0010t0003g0322
a0003c0004t0002g0128
a0003c0004t0003g0283
a0003c0004t0014g0164
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0004c0006t0004g0188
a0004c0006t0016g0221
 72 HG00323.hp2
HG00621.hp1
HG00642.hp2
others(69): Show 
HG00323.hp2
HG00621.hp1
HG00642.hp2
HG00733.hp2
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01943.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02129.hp1
HG02132.hp2
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02559.hp1
HG02647.hp1
HG02735.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
NA18948.hp1
NA18953.hp1
NA18957.hp2
NA18959.hp1
NA18961.hp1
NA18970.hp2
NA18983.hp1
NA18984.hp1
NA18986.hp2
NA19004.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19074.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.1213+26758_1213+26
others(12): Show 
c.1213+26758_1213+26763dupGTGTGT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78812592
chr5:78812592 A
A
 AACACACA
others(1): Show 
AACACACAC
 69 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(66): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0245
a0001c0001t0001g0305
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0003g0093
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0004g0083
a0001c0001t0005g0041
a0001c0001t0005g0172
a0001c0001t0006g0356
a0001c0001t0008g0036
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0141
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0329
a0001c0001t0019g0249
a0001c0001t0021g0173
a0001c0001t0024g0182
a0001c0003t0001g0047
a0001c0003t0001g0049
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0006g0267
a0001c0003t0014g0220
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0007t0036g0259
a0001c0007t0077g0070
a0001c0021t0003g0358
a0002c0002t0001g0183
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0002g0295
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0005g0241
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0011g0234
a0002c0002t0015g0207
a0002c0002t0050g0008
a0002c0013t0017g0015
a0003c0004t0003g0292
a0003c0004t0007g0152
a0003c0004t0011g0007
a0003c0004t0062g0133
a0004c0006t0004g0215
a0004c0006t0024g0061
a0004c0006t0024g0175
a0007c0012t0032g0180
 69 HG00280.hp1
HG00408.hp1
HG00408.hp2
others(66): Show 
HG00280.hp1
HG00408.hp1
HG00408.hp2
HG01074.hp1
HG01167.hp1
HG01258.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02027.hp2
HG02056.hp2
HG02080.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02523.hp2
HG02602.hp2
HG02615.hp2
HG02683.hp1
HG02723.hp2
HG02738.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp2
HG03139.hp2
HG03453.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp2
HG03710.hp1
HG03942.hp2
HG04199.hp2
HG04204.hp2
NA18612.hp1
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18943.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp2
NA18953.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18972.hp2
NA18979.hp1
NA18983.hp2
NA18985.hp1
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18992.hp2
NA18994.hp2
NA19000.hp1
NA19001.hp2
NA19004.hp2
NA19010.hp1
NA19011.hp2
NA19065.hp1
NA19066.hp1
NA19074.hp2
NA19077.hp1
NA19084.hp1
NA19085.hp2
NA19088.hp1
 intron_variant MODIFIER c.1213+26756_1213+26
others(14): Show 
c.1213+26756_1213+26763dupGTGTGTGT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78812592
chr5:78812592 A
A
 AACACACA
others(3): Show 
AACACACACAC
 19 a0001c0001t0001g0144
a0001c0001t0001g0315
a0001c0001t0003g0214
others(16): Show 
a0001c0001t0001g0144
a0001c0001t0001g0315
a0001c0001t0003g0214
a0001c0001t0003g0327
a0001c0001t0004g0020
a0001c0001t0007g0250
a0001c0001t0008g0286
a0001c0001t0020g0028
a0001c0003t0002g0338
a0001c0003t0048g0266
a0001c0005t0032g0117
a0002c0002t0006g0294
a0002c0002t0015g0296
a0002c0002t0019g0248
a0003c0004t0001g0153
a0003c0004t0001g0187
a0003c0004t0003g0095
a0003c0004t0054g0142
a0003c0004t0072g0323
 19 HG00099.hp2
HG00280.hp2
HG00621.hp2
others(16): Show 
HG00099.hp2
HG00280.hp2
HG00621.hp2
HG00642.hp1
HG00673.hp1
HG01243.hp1
HG02056.hp1
HG02145.hp2
HG02155.hp2
HG02698.hp2
HG02965.hp1
HG03017.hp2
HG03486.hp2
NA18942.hp2
NA18950.hp2
NA18968.hp1
NA19009.hp1
NA19011.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+26754_1213+26
others(16): Show 
c.1213+26754_1213+26763dupGTGTGTGTGT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78812592
chr5:78812592 A
A
 AACACACA
others(5): Show 
AACACACACACAC
 7 a0001c0001t0004g0009
a0001c0001t0021g0347
a0001c0003t0012g0089
others(4): Show 
a0001c0001t0004g0009
a0001c0001t0021g0347
a0001c0003t0012g0089
a0001c0003t0028g0051
a0001c0003t0058g0045
a0002c0002t0019g0303
a0002c0002t0071g0280
 7 HG02109.hp2
HG02258.hp2
HG03209.hp2
others(4): Show 
HG02109.hp2
HG02258.hp2
HG03209.hp2
HG03927.hp1
NA18906.hp1
NA18949.hp2
NA18963.hp1
 intron_variant MODIFIER c.1213+26752_1213+26
others(18): Show 
c.1213+26752_1213+26763dupGTGTGTGTGTGT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78812592
chr5:78812592 A
A
 ACACACAC
ACACACAC
 3 a0001c0001t0003g0140
a0001c0001t0003g0339
a0001c0003t0031g0119
a0001c0001t0003g0140
a0001c0001t0003g0339
a0001c0003t0031g0119
 3 HG02129.hp2
HG02135.hp1
HG03486.hp1
HG02129.hp2
HG02135.hp1
HG03486.hp1
 intron_variant MODIFIER c.1213+26763_1213+26
others(13): Show 
c.1213+26763_1213+26764insGTGTGTG
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78812592
chr5:78812592 A
A
 ACACACAC
others(2): Show 
ACACACACAC
 4 a0001c0001t0011g0033
a0001c0003t0001g0048
a0002c0002t0013g0300
others(1): Show 
a0001c0001t0011g0033
a0001c0003t0001g0048
a0002c0002t0013g0300
a0002c0002t0019g0052
 4 NA18943.hp1
NA18947.hp1
NA18954.hp1
others(1): Show 
NA18943.hp1
NA18947.hp1
NA18954.hp1
NA18954.hp2
 intron_variant MODIFIER c.1213+26763_1213+26
others(15): Show 
c.1213+26763_1213+26764insGTGTGTGTG
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78812592
chr5:78812592 A
A
 C
C
 1 a0002c0002t0013g0240
a0002c0002t0013g0240
 1 NA18989.hp2
NA18989.hp2
 intron_variant MODIFIER c.1213+26764T>G
c.1213+26764T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78812592
chr5:78812592 AAC
AAC
 A
A
 18 a0001c0001t0002g0261
a0001c0001t0007g0115
a0001c0003t0002g0013
others(15): Show 
a0001c0001t0002g0261
a0001c0001t0007g0115
a0001c0003t0002g0013
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0009g0281
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0007t0068g0111
a0001c0015t0027g0102
a0002c0002t0001g0158
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0011t0053g0002
 18 HG00099.hp1
HG00140.hp2
HG00733.hp1
others(15): Show 
HG00099.hp1
HG00140.hp2
HG00733.hp1
HG01070.hp2
HG01071.hp1
HG01168.hp2
HG01891.hp1
HG02040.hp2
HG02055.hp2
HG02451.hp2
HG02572.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02976.hp2
HG03041.hp1
HG03195.hp2
HG04184.hp1
 intron_variant MODIFIER c.1213+26762_1213+26
others(8): Show 
c.1213+26762_1213+26763delGT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78812592
chr5:78812592 AACAC
AACAC
 A
A
 35 a0001c0001t0001g0135
a0001c0001t0001g0265
a0001c0001t0003g0021
others(32): Show 
a0001c0001t0001g0135
a0001c0001t0001g0265
a0001c0001t0003g0021
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0007g0181
a0001c0001t0008g0065
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0014g0189
a0001c0001t0020g0290
a0001c0001t0025g0316
a0001c0001t0037g0059
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0003g0334
a0001c0003t0015g0346
a0001c0003t0022g0229
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0006g0191
a0002c0002t0023g0162
a0002c0002t0030g0304
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0004g0122
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
 36 HG00438.hp2
HG00558.hp1
HG00738.hp1
others(33): Show 
HG00438.hp2
HG00558.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp2
HG01175.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG02074.hp1
HG02293.hp1
HG03491.hp1
HG03942.hp1
HG04199.hp1
NA18951.hp2
NA18952.hp1
NA18959.hp2
NA18969.hp2
NA18972.hp1
NA18975.hp2
NA19001.hp1
NA19063.hp1
NA19066.hp2
NA19068.hp2
NA19077.hp2
NA19085.hp1
NA20805.hp1
 intron_variant MODIFIER c.1213+26760_1213+26
others(10): Show 
c.1213+26760_1213+26763delGTGT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78812592
chr5:78812592 AACACAC
AACACAC
 A
A
 11 a0001c0001t0004g0337
a0001c0001t0031g0324
a0001c0003t0001g0326
others(8): Show 
a0001c0001t0004g0337
a0001c0001t0031g0324
a0001c0003t0001g0326
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0012g0166
a0001c0003t0022g0178
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0018t0002g0016
 11 HG01109.hp2
HG01884.hp2
HG02055.hp1
others(8): Show 
HG01109.hp2
HG01884.hp2
HG02055.hp1
HG02109.hp1
HG03130.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03834.hp2
NA18906.hp2
NA19240.hp2
 intron_variant MODIFIER c.1213+26758_1213+26
others(12): Show 
c.1213+26758_1213+26763delGTGTGT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78812592
chr5:78812592 AACACACA
others(3): Show 
AACACACACAC
 A
A
 37 a0001c0001t0001g0087
a0001c0001t0001g0289
a0001c0001t0002g0039
others(34): Show 
a0001c0001t0001g0087
a0001c0001t0001g0289
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0008g0030
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0003t0002g0253
a0001c0003t0010g0157
a0001c0003t0012g0232
a0001c0003t0046g0343
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0075g0112
a0002c0002t0001g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0004g0079
a0002c0002t0015g0053
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0055g0094
a0002c0002t0066g0355
a0003c0004t0001g0154
a0003c0004t0002g0243
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0331
a0003c0014t0015g0202
 37 HG00140.hp1
HG00423.hp1
HG00423.hp2
others(34): Show 
HG00140.hp1
HG00423.hp1
HG00423.hp2
HG00609.hp1
HG00609.hp2
HG00673.hp2
HG00741.hp2
HG01069.hp1
HG01106.hp2
HG01515.hp2
HG01884.hp1
HG02027.hp1
HG02080.hp1
HG02523.hp1
HG02602.hp1
HG02622.hp1
HG02647.hp2
HG02735.hp2
HG02738.hp2
HG02895.hp1
HG02976.hp1
HG03017.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03927.hp2
NA18961.hp2
NA18963.hp2
NA18979.hp2
NA18984.hp2
NA18993.hp2
NA18995.hp2
NA19009.hp2
NA19065.hp2
NA20300.hp1
NA20752.hp1
 intron_variant MODIFIER c.1213+26754_1213+26
others(16): Show 
c.1213+26754_1213+26763delGTGTGTGTGT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78812592
chr5:78812622 CACACACA
others(3): Show 
CACACACACAT
 C
C
 1 a0001c0017t0002g0088
a0001c0017t0002g0088
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.1213+26724_1213+26
others(16): Show 
c.1213+26724_1213+26733delATGTGTGTGT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78812622
chr5:78812628 CACAT
CACAT
 C
C
 21 a0001c0001t0002g0143
a0001c0001t0003g0019
a0001c0001t0003g0256
others(18): Show 
a0001c0001t0002g0143
a0001c0001t0003g0019
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0008g0223
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0021g0174
a0001c0001t0047g0043
a0001c0003t0003g0050
a0001c0003t0005g0060
a0002c0002t0001g0345
a0002c0002t0002g0179
a0002c0002t0002g0314
a0002c0002t0006g0211
a0002c0002t0012g0228
a0002c0002t0014g0106
a0002c0002t0026g0176
a0003c0004t0049g0139
a0004c0006t0016g0163
a0006c0020t0003g0127
 21 HG00323.hp1
HG00544.hp1
HG01346.hp2
others(18): Show 
HG00323.hp1
HG00544.hp1
HG01346.hp2
HG01978.hp2
HG02040.hp1
HG02683.hp2
HG03654.hp2
HG04115.hp2
NA18946.hp2
NA18950.hp1
NA18968.hp2
NA18978.hp1
NA18978.hp2
NA18988.hp1
NA18993.hp1
NA18994.hp1
NA19000.hp2
NA19010.hp2
NA19043.hp1
NA19068.hp1
NA19088.hp2
 intron_variant MODIFIER c.1213+26724_1213+26
others(10): Show 
c.1213+26724_1213+26727delATGT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78812628
chr5:78812632 T
T
 C
C
 15 a0001c0001t0001g0321
a0001c0001t0003g0159
a0001c0001t0004g0238
others(12): Show 
a0001c0001t0001g0321
a0001c0001t0003g0159
a0001c0001t0004g0238
a0001c0003t0002g0276
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0352
a0001c0003t0012g0350
a0001c0003t0018g0057
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0005t0076g0268
a0001c0022t0006g0359
a0002c0002t0052g0098
 15 HG02451.hp1
HG02559.hp1
HG02647.hp1
others(12): Show 
HG02451.hp1
HG02559.hp1
HG02647.hp1
HG02723.hp1
HG02896.hp2
HG02897.hp2
HG03139.hp1
HG03225.hp1
HG03453.hp1
NA18953.hp1
NA19030.hp2
NA19043.hp2
NA19074.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.1213+26724A>G
c.1213+26724A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78812632
chr5:78812810 T
T
 C
C
 6 a0001c0001t0001g0135
a0001c0001t0005g0171
a0001c0001t0005g0235
others(3): Show 
a0001c0001t0001g0135
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0059g0332
 6 HG00438.hp2
HG00558.hp1
HG01943.hp1
others(3): Show 
HG00438.hp2
HG00558.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02074.hp1
 intron_variant MODIFIER c.1213+26546A>G
c.1213+26546A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78812810
chr5:78813063 T
T
 TCTTC
TCTTC
 28 a0001c0001t0002g0143
a0001c0001t0003g0019
a0001c0001t0003g0256
others(25): Show 
a0001c0001t0002g0143
a0001c0001t0003g0019
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0004g0238
a0001c0001t0008g0223
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0014g0199
a0001c0001t0021g0174
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0003t0002g0269
a0001c0003t0003g0050
a0001c0003t0005g0060
a0001c0003t0028g0348
a0001c0007t0004g0100
a0002c0002t0001g0345
a0002c0002t0002g0179
a0002c0002t0002g0314
a0002c0002t0006g0211
a0002c0002t0012g0228
a0002c0002t0014g0106
a0002c0002t0026g0176
a0003c0004t0049g0139
a0004c0006t0016g0163
a0006c0020t0003g0127
 28 HG00323.hp1
HG00544.hp1
HG00741.hp1
others(25): Show 
HG00323.hp1
HG00544.hp1
HG00741.hp1
HG01074.hp2
HG01346.hp2
HG01891.hp1
HG01978.hp2
HG02040.hp1
HG02683.hp2
HG03041.hp1
HG03540.hp2
HG03654.hp2
HG04115.hp2
NA18946.hp2
NA18950.hp1
NA18953.hp1
NA18968.hp2
NA18978.hp1
NA18978.hp2
NA18988.hp1
NA18993.hp1
NA18994.hp1
NA19000.hp2
NA19010.hp2
NA19030.hp1
NA19043.hp1
NA19068.hp1
NA19088.hp2
 intron_variant MODIFIER c.1213+26289_1213+26
others(10): Show 
c.1213+26289_1213+26292dupGAAG
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78813063
chr5:78813254 G
G
 C
C
 1 a0001c0001t0011g0105
a0001c0001t0011g0105
 1 NA18983.hp2
NA18983.hp2
 intron_variant MODIFIER c.1213+26102C>G
c.1213+26102C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78813254
chr5:78813309 C
C
 T
T
 3 a0001c0001t0004g0009
a0001c0003t0070g0251
a0002c0002t0006g0014
a0001c0001t0004g0009
a0001c0003t0070g0251
a0002c0002t0006g0014
 3 HG02896.hp1
HG02965.hp2
HG03209.hp2
HG02896.hp1
HG02965.hp2
HG03209.hp2
 intron_variant MODIFIER c.1213+26047G>A
c.1213+26047G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78813309
chr5:78813375 A
A
 T
T
 1 a0001c0005t0035g0165
a0001c0005t0035g0165
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.1213+25981T>A
c.1213+25981T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78813375
chr5:78813504 T
T
 C
C
 8 a0001c0001t0001g0335
a0001c0001t0007g0333
a0002c0002t0005g0042
others(5): Show 
a0001c0001t0001g0335
a0001c0001t0007g0333
a0002c0002t0005g0042
a0002c0002t0009g0193
a0002c0002t0009g0194
a0003c0004t0014g0164
a0004c0006t0004g0188
a0004c0006t0004g0215
 8 HG01257.hp1
HG01358.hp1
HG01496.hp2
others(5): Show 
HG01257.hp1
HG01358.hp1
HG01496.hp2
HG01943.hp2
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02293.hp2
 intron_variant MODIFIER c.1213+25852A>G
c.1213+25852A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78813504
chr5:78813676 G
G
 C
C
 7 a0001c0001t0002g0261
a0001c0003t0002g0013
a0001c0003t0002g0349
others(4): Show 
a0001c0001t0002g0261
a0001c0003t0002g0013
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0027g0114
a0001c0005t0035g0165
a0001c0015t0027g0102
 7 HG00733.hp1
HG01168.hp2
HG02055.hp2
others(4): Show 
HG00733.hp1
HG01168.hp2
HG02055.hp2
HG02559.hp2
HG02572.hp2
HG02717.hp1
HG03195.hp2
 intron_variant MODIFIER c.1213+25680C>G
c.1213+25680C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78813676
chr5:78813705 C
C
 T
T
 23 a0001c0001t0003g0021
a0001c0001t0004g0278
a0001c0001t0007g0115
others(20): Show 
a0001c0001t0003g0021
a0001c0001t0004g0278
a0001c0001t0007g0115
a0001c0001t0018g0130
a0001c0001t0031g0324
a0001c0001t0065g0017
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0031g0119
a0001c0007t0068g0111
a0001c0018t0002g0016
a0002c0002t0001g0158
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0023g0162
a0002c0011t0053g0002
a0003c0004t0023g0148
a0003c0004t0023g0151
 23 HG00099.hp1
HG00140.hp2
HG00738.hp2
others(20): Show 
HG00099.hp1
HG00140.hp2
HG00738.hp2
HG01070.hp1
HG01109.hp2
HG01884.hp2
HG02040.hp2
HG02109.hp1
HG02622.hp2
HG02698.hp1
HG02809.hp1
HG02818.hp2
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03209.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG04184.hp1
NA18972.hp1
NA19066.hp2
NA20805.hp1
 intron_variant MODIFIER c.1213+25651G>A
c.1213+25651G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78813705
chr5:78813895 C
C
 T
T
 301 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(298): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0334
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0076g0268
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0086
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0007g0152
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0007c0012t0032g0180
 302 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(299): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18994.hp2
NA18995.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+25461G>A
c.1213+25461G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78813895
chr5:78813954 G
G
 A
A
 4 a0001c0003t0003g0334
a0001c0003t0022g0229
a0002c0002t0004g0096
others(1): Show 
a0001c0003t0003g0334
a0001c0003t0022g0229
a0002c0002t0004g0096
a0002c0002t0004g0097
 4 NA18951.hp2
NA19001.hp1
NA19063.hp1
others(1): Show 
NA18951.hp2
NA19001.hp1
NA19063.hp1
NA19085.hp1
 intron_variant MODIFIER c.1213+25402C>T
c.1213+25402C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78813954
chr5:78813976 AACAGTCT
others(2064): Show 
AACAGTCTCCAATAAAAACACTTAGATAATAATCCATTTGGAAAGAATGA
GCTCCAAATATGGATTTTATGAGTAAACAAAGGTTCTGTATTGCAAAAGT
TAATAGACTGTCTTCACATTTAATTTCATGACCACTTCCTCTGTTTGACT
CTTCTGTGGCATAGCTTGAGATGTCTGCAAGCCCTGCTACTTCTGAAGGA
AAATATACAGAGCAAAAAGACATGCTGTTAATCAAAGACTCTGGCATCTG
AATTTAATAATCAGATGCCATTTGGAGTCTATACAGTTTTTCAATAGTGT
AACACACAAATCAGTCAGCACATACATTTCAATAGTGATTAATCTCTTTT
TACATGCACATCTGCGATCCCTTATGAAATAGTCTTAAAAGCAACCTAAT
AAGAAAGGAGAAAGAACCTGTGGGTCAAAAAGGATCATCATGAAGCCAAG
AGATGTTGAGTCAGTCTTTCCCTAAGTCTCTCACCACATAAAGCTACTGC
GCCTTTATTTACATATTTTTCCCAACTGAAATGGTCTCTCCTCTCTTTTA
AAGGCCCACTCTTTTTTTTGAAGTCTTCAGGGAATTCCATGTAGGAACAT
TCTTCCTCTTCCCACCTAATATGTCACTGGTTCATCATTTTCTCTGTTAC
TCACTTGCTTCTGTAGCACCCACTGTTGGGTGTTGTTCGTTATCTTTATG
TATGTCTACCTCCTGTTCCCTAACTCAGTTATACGGTCTTACAGGACAAA
GAACTATGGATTATATGCTTTCCATGTCTACAGCAAGCTTCCTCAAAGTG
TGGTCCTTGAATCACCAGAAATTCCTTGGATGTTTGATCAAAATATAGCT
GAGAGATCCTGAAGCTGCATGAAGGGAGGGCCTAGGAAGCTGCATTTTCA
GCATGCTGCCCAGGTGACTTTAATTCACATCAAGGATTGAGGACCCCTGT
ATACAAGGACTAAGAGAGTGCTATGAATAGAATGGGTACCAAGAAGTATT
TGTTGAATATATAAGGGCACACAAAGTAAAAAAAACCCCAAACTAAAACA
ACAAAACCAACCAAACAAACAAAAAACAATGTGCAAAGTTAAAGGCGTTG
GGATTATTTAGTCTTGTGCCTGTAAGTTTAATCACAACCCAATTATCGAA
AAGATTATTGAAGTTGACTGTAGTAAAGCATTATTTTAAAGAGATTGCTT
ATTTTCTAGTCGCATGGTTGCTGAATAAGGCAAACGATCTCCCCTAAACT
CCTAATTAGAAGATCATAATGGTCATCTCCTTTCCCCTTCTCCACCCTTC
CCTGTTGACCTTCCCCAAGAATCCTTTCCTTGGCTTTCCTTCTTGTCTCT
ATTGCTTTTTCCCTGCTTTTTTCTATGAGACTGACTGCTTTTCACTCATC
TCACTGTGGCTTGCAGCTTCAAGAACAGAAGAGAGCAGGCCACAAAGACA
AATTAGAACAAGACACCCCTCTCTGTGCCAGAAAGTGTGACTTGGCAAAT
GGAGGACAGGCTGTGCCCCTGTGCAGTTAGCAACCTGTGAAACTGTATGT
GGCAGCCTGTCAAAAAAGGTGGAGGAAAGCATCTGGGCCTACATTTTCCT
GAAGATGGCTTTTCAAAATTTCTGTTTTTAGCTGACTTCACTCTTCTCTA
TATGCTATTAGGTAATAAGAAAAGTTCCAAACATTATTCACTGGGATGCT
CAAAAGTAAGCTACATGTGCCATATTACTGTAAGACAAGTATAAAGGGCT
TGCATTTTATTTCCACAAGGAATGAATAAAGGGAAAGGAATTTACTTTTG
GGAAAAGGTAACACAAAGAACTTTGGTCTATGAAGGACACAAATGAATTC
TCATCTTCAAAGATATTTTGAAATAATATAAGAAATGACCCATCTGTGGT
AGTTTATGGTTGATCTAAGTAAGACAGCCTCCTGGGGCCCCTTCTTTCTT
GGAGAAGGCACTTTTCCTATGATGCCAGGTTCCTAGTTCCCGCCTCTTCT
GCCACTTCTGCAGGAGCCACCCGAGGCCTTGAGGGGCCCTTTCAGAACCT
TGGGTCTGAAGTCATTTCTTAT
 A
A
 17 a0001c0001t0003g0021
a0001c0001t0007g0115
a0001c0001t0031g0324
others(14): Show 
a0001c0001t0003g0021
a0001c0001t0007g0115
a0001c0001t0031g0324
a0001c0001t0065g0017
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0022g0178
a0001c0018t0002g0016
a0002c0002t0001g0158
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0023g0162
a0002c0011t0053g0002
a0003c0004t0023g0148
a0003c0004t0023g0151
 17 HG00099.hp1
HG00140.hp2
HG00738.hp2
others(14): Show 
HG00099.hp1
HG00140.hp2
HG00738.hp2
HG01070.hp1
HG01109.hp2
HG01884.hp2
HG02040.hp2
HG02109.hp1
HG02698.hp1
HG02809.hp1
HG03130.hp2
HG03471.hp1
HG03471.hp2
HG04184.hp1
NA18972.hp1
NA19066.hp2
NA20805.hp1
 intron_variant MODIFIER c.1213+23309_1213+25
others(6): Show 
c.1213+23309_1213+25379del
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78813976
chr5:78814041 T
T
 G
G
 3 a0001c0003t0008g0116
a0001c0003t0018g0260
a0001c0003t0031g0119
a0001c0003t0008g0116
a0001c0003t0018g0260
a0001c0003t0031g0119
 3 HG02818.hp2
HG03209.hp1
HG03486.hp1
HG02818.hp2
HG03209.hp1
HG03486.hp1
 intron_variant MODIFIER c.1213+25315A>C
c.1213+25315A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78814041
chr5:78814294 C
C
 A
A
 39 a0001c0001t0001g0087
a0001c0001t0001g0265
a0001c0001t0001g0289
others(36): Show 
a0001c0001t0001g0087
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0004g0337
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0007g0181
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0014g0189
a0001c0001t0020g0290
a0001c0001t0025g0316
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0051g0239
a0001c0003t0001g0326
a0001c0003t0003g0334
a0001c0003t0010g0157
a0001c0003t0015g0346
a0001c0003t0022g0229
a0001c0003t0046g0343
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0336
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0006g0191
a0002c0002t0030g0304
a0002c0002t0038g0006
a0002c0002t0066g0355
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0004g0122
a0003c0004t0012g0123
a0003c0014t0015g0202
 40 HG00140.hp1
HG00738.hp1
HG00741.hp2
others(37): Show 
HG00140.hp1
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01175.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp2
HG01952.hp2
HG01975.hp2
HG01993.hp1
HG02293.hp1
HG02735.hp2
HG02738.hp2
HG03490.hp1
HG03491.hp1
HG03654.hp1
HG03834.hp2
HG03942.hp1
HG04199.hp1
HG04204.hp1
NA18951.hp2
NA18952.hp1
NA18959.hp2
NA18969.hp2
NA18975.hp2
NA19001.hp1
NA19063.hp1
NA19068.hp2
NA19077.hp2
NA19085.hp1
NA20752.hp1
 intron_variant MODIFIER c.1213+25062G>T
c.1213+25062G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78814294
chr5:78814462 C
C
 T
T
 6 a0001c0001t0001g0135
a0001c0001t0005g0171
a0001c0001t0005g0235
others(3): Show 
a0001c0001t0001g0135
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0059g0332
 6 HG00438.hp2
HG00558.hp1
HG01943.hp1
others(3): Show 
HG00438.hp2
HG00558.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02074.hp1
 intron_variant MODIFIER c.1213+24894G>A
c.1213+24894G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78814462
chr5:78814475 C
C
 T
T
 16 a0001c0001t0002g0005
a0001c0001t0003g0159
a0001c0001t0007g0250
others(13): Show 
a0001c0001t0002g0005
a0001c0001t0003g0159
a0001c0001t0007g0250
a0001c0003t0002g0276
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0350
a0001c0003t0018g0057
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0017t0002g0088
a0001c0022t0006g0359
a0002c0002t0052g0098
 16 HG01243.hp1
HG02451.hp1
HG02559.hp1
others(13): Show 
HG01243.hp1
HG02451.hp1
HG02559.hp1
HG02647.hp1
HG02723.hp1
HG02886.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG03139.hp1
HG03225.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1213+24881G>A
c.1213+24881G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78814475
chr5:78814595 T
T
 C
C
 1 a0001c0001t0002g0005
a0001c0001t0002g0005
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.1213+24761A>G
c.1213+24761A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78814595
chr5:78814615 T
T
 A
A
 6 a0001c0003t0002g0253
a0001c0003t0012g0232
a0001c0003t0061g0252
others(3): Show 
a0001c0003t0002g0253
a0001c0003t0012g0232
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0075g0112
 6 HG01884.hp1
HG02622.hp1
HG02647.hp2
others(3): Show 
HG01884.hp1
HG02622.hp1
HG02647.hp2
HG02895.hp1
HG02976.hp1
NA20300.hp1
 intron_variant MODIFIER c.1213+24741A>T
c.1213+24741A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78814615
chr5:78814709 C
C
 T
T
 181 a0001c0001t0001g0087
a0001c0001t0001g0135
a0001c0001t0001g0263
others(178): Show 
a0001c0001t0001g0087
a0001c0001t0001g0135
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0143
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0063
a0001c0001t0003g0093
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0004g0058
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0008g0030
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0046
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0290
a0001c0001t0025g0316
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0326
a0001c0003t0002g0013
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0008g0116
a0001c0003t0010g0157
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0229
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0058g0045
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0314
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0066g0355
a0002c0002t0067g0203
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0154
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0331
a0003c0004t0012g0123
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0014t0015g0202
a0004c0006t0016g0163
a0004c0006t0016g0221
a0005c0016t0002g0237
a0006c0020t0003g0127
 182 HG00140.hp1
HG00323.hp1
HG00323.hp2
others(179): Show 
HG00140.hp1
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00609.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp1
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02080.hp1
HG02155.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18906.hp2
NA18942.hp1
NA18946.hp2
NA18947.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18959.hp2
NA18961.hp2
NA18963.hp2
NA18968.hp2
NA18969.hp2
NA18975.hp2
NA18978.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp2
NA19001.hp1
NA19004.hp1
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19077.hp2
NA19085.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+24647G>A
c.1213+24647G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78814709
chr5:78814739 T
T
 C
C
 47 a0001c0001t0001g0087
a0001c0001t0001g0265
a0001c0001t0001g0289
others(44): Show 
a0001c0001t0001g0087
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0002g0277
a0001c0001t0003g0019
a0001c0001t0004g0238
a0001c0001t0004g0337
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0006g0219
a0001c0001t0007g0181
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0014g0189
a0001c0001t0020g0290
a0001c0001t0025g0316
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0051g0239
a0001c0003t0001g0326
a0001c0003t0003g0334
a0001c0003t0010g0157
a0001c0003t0015g0346
a0001c0003t0022g0229
a0001c0003t0046g0343
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0019t0022g0233
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0336
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0006g0191
a0002c0002t0030g0304
a0002c0002t0038g0006
a0002c0002t0066g0355
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0004g0122
a0003c0004t0012g0123
a0003c0014t0015g0202
a0006c0020t0003g0127
 48 HG00140.hp1
HG00738.hp1
HG00741.hp2
others(45): Show 
HG00140.hp1
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01175.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp2
HG01891.hp2
HG01952.hp2
HG01975.hp2
HG01993.hp1
HG02293.hp1
HG02735.hp2
HG02738.hp2
HG03098.hp2
HG03130.hp1
HG03453.hp2
HG03490.hp1
HG03491.hp1
HG03654.hp1
HG03834.hp2
HG03942.hp1
HG04199.hp1
HG04204.hp1
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18959.hp2
NA18969.hp2
NA18975.hp2
NA19001.hp1
NA19063.hp1
NA19068.hp2
NA19077.hp2
NA19085.hp1
NA19088.hp2
NA19240.hp1
NA20752.hp1
 intron_variant MODIFIER c.1213+24617A>G
c.1213+24617A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78814739
chr5:78814762 G
G
 C
C
 287 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(284): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0334
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0076g0268
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0069
a0002c0002t0001g0183
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0026g0086
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0007g0152
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 288 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(285): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18994.hp2
NA18995.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+24594C>G
c.1213+24594C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78814762
chr5:78814845 T
T
 G
G
 1 a0001c0001t0039g0291
a0001c0001t0039g0291
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.1213+24511A>C
c.1213+24511A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78814845
chr5:78815002 T
T
 TA
TA
 45 a0001c0001t0002g0039
a0001c0001t0002g0143
a0001c0001t0002g0317
others(42): Show 
a0001c0001t0002g0039
a0001c0001t0002g0143
a0001c0001t0002g0317
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0008g0223
a0001c0001t0011g0026
a0001c0001t0014g0199
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0003t0002g0269
a0001c0003t0003g0050
a0001c0003t0005g0060
a0001c0003t0028g0348
a0001c0003t0058g0045
a0001c0007t0004g0100
a0002c0002t0001g0054
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0179
a0002c0002t0002g0314
a0002c0002t0004g0079
a0002c0002t0006g0211
a0002c0002t0012g0228
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0176
a0002c0002t0042g0224
a0002c0002t0055g0094
a0003c0004t0001g0154
a0003c0004t0002g0243
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0331
a0003c0004t0049g0139
a0004c0006t0016g0163
 45 HG00323.hp1
HG00423.hp1
HG00423.hp2
others(42): Show 
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00609.hp1
HG00609.hp2
HG00673.hp2
HG00741.hp1
HG01074.hp2
HG01346.hp2
HG01891.hp1
HG01978.hp2
HG02027.hp1
HG02040.hp1
HG02080.hp1
HG02523.hp1
HG02602.hp1
HG02683.hp2
HG03017.hp1
HG03041.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
NA18946.hp2
NA18961.hp2
NA18963.hp2
NA18968.hp2
NA18978.hp1
NA18979.hp2
NA18984.hp2
NA18988.hp1
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp2
NA19010.hp2
NA19030.hp1
NA19043.hp1
NA19065.hp2
NA19068.hp1
 intron_variant MODIFIER c.1213+24353dupT
c.1213+24353dupT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78815002
chr5:78815179 T
T
 C
C
 1 a0002c0002t0001g0298
a0002c0002t0001g0298
 1 NA18985.hp1
NA18985.hp1
 intron_variant MODIFIER c.1213+24177A>G
c.1213+24177A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78815179
chr5:78815350 A
A
 G
G
 6 a0001c0001t0001g0135
a0001c0001t0005g0171
a0001c0001t0005g0235
others(3): Show 
a0001c0001t0001g0135
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0059g0332
 6 HG00438.hp2
HG00558.hp1
HG01943.hp1
others(3): Show 
HG00438.hp2
HG00558.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02074.hp1
 intron_variant MODIFIER c.1213+24006T>C
c.1213+24006T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78815350
chr5:78815395 C
C
 T
T
 1 a0001c0003t0005g0060
a0001c0003t0005g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.1213+23961G>A
c.1213+23961G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78815395
chr5:78815519 T
T
 C
C
 1 a0001c0001t0008g0065
a0001c0001t0008g0065
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.1213+23837A>G
c.1213+23837A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78815519
chr5:78815534 G
G
 A
A
 2 a0001c0001t0007g0250
a0001c0005t0032g0117
a0001c0001t0007g0250
a0001c0005t0032g0117
 2 HG01243.hp1
HG02965.hp1
HG01243.hp1
HG02965.hp1
 intron_variant MODIFIER c.1213+23822C>T
c.1213+23822C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78815534
chr5:78815616 C
C
 T
T
 6 a0001c0001t0002g0261
a0001c0003t0002g0013
a0001c0003t0002g0349
others(3): Show 
a0001c0001t0002g0261
a0001c0003t0002g0013
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0027g0114
a0001c0015t0027g0102
 6 HG00733.hp1
HG01168.hp2
HG02055.hp2
others(3): Show 
HG00733.hp1
HG01168.hp2
HG02055.hp2
HG02572.hp2
HG02717.hp1
HG03195.hp2
 intron_variant MODIFIER c.1213+23740G>A
c.1213+23740G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78815616
chr5:78815685 G
G
 A
A
 6 a0001c0001t0002g0261
a0001c0003t0002g0013
a0001c0003t0002g0349
others(3): Show 
a0001c0001t0002g0261
a0001c0003t0002g0013
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0027g0114
a0001c0015t0027g0102
 6 HG00733.hp1
HG01168.hp2
HG02055.hp2
others(3): Show 
HG00733.hp1
HG01168.hp2
HG02055.hp2
HG02572.hp2
HG02717.hp1
HG03195.hp2
 intron_variant MODIFIER c.1213+23671C>T
c.1213+23671C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78815685
chr5:78815851 A
A
 G
G
 49 a0001c0001t0001g0087
a0001c0001t0001g0265
a0001c0001t0001g0289
others(46): Show 
a0001c0001t0001g0087
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0002g0277
a0001c0001t0003g0019
a0001c0001t0004g0238
a0001c0001t0004g0337
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0006g0219
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0014g0189
a0001c0001t0020g0290
a0001c0001t0025g0316
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0051g0239
a0001c0003t0001g0326
a0001c0003t0003g0334
a0001c0003t0010g0157
a0001c0003t0015g0346
a0001c0003t0022g0229
a0001c0003t0046g0343
a0001c0005t0032g0117
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0019t0022g0233
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0336
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0006g0191
a0002c0002t0030g0304
a0002c0002t0038g0006
a0002c0002t0066g0355
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0004g0122
a0003c0004t0012g0123
a0003c0014t0015g0202
a0006c0020t0003g0127
 50 HG00140.hp1
HG00738.hp1
HG00741.hp2
others(47): Show 
HG00140.hp1
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01175.hp1
HG01243.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp2
HG01891.hp2
HG01952.hp2
HG01975.hp2
HG01993.hp1
HG02293.hp1
HG02735.hp2
HG02738.hp2
HG02965.hp1
HG03098.hp2
HG03130.hp1
HG03453.hp2
HG03490.hp1
HG03491.hp1
HG03654.hp1
HG03834.hp2
HG03942.hp1
HG04199.hp1
HG04204.hp1
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18959.hp2
NA18969.hp2
NA18975.hp2
NA19001.hp1
NA19063.hp1
NA19068.hp2
NA19077.hp2
NA19085.hp1
NA19088.hp2
NA19240.hp1
NA20752.hp1
 intron_variant MODIFIER c.1213+23505T>C
c.1213+23505T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78815851
chr5:78815966 C
C
 T
T
 1 a0004c0006t0016g0163
a0004c0006t0016g0163
 1 HG00323.hp1
HG00323.hp1
 intron_variant MODIFIER c.1213+23390G>A
c.1213+23390G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78815966
chr5:78816334 C
C
 A
A
 21 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0167
others(18): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0004g0328
a0001c0001t0005g0038
a0002c0002t0001g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0004g0079
a0002c0002t0015g0053
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0042g0224
a0002c0002t0055g0094
a0003c0004t0001g0154
a0003c0004t0002g0243
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0331
 21 HG00423.hp1
HG00423.hp2
HG00609.hp1
others(18): Show 
HG00423.hp1
HG00423.hp2
HG00609.hp1
HG00609.hp2
HG00673.hp2
HG02027.hp1
HG02080.hp1
HG02523.hp1
HG02602.hp1
HG03017.hp1
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03927.hp2
NA18961.hp2
NA18963.hp2
NA18979.hp2
NA18984.hp2
NA18993.hp2
NA18995.hp2
NA19065.hp2
 intron_variant MODIFIER c.1213+23022G>T
c.1213+23022G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78816334
chr5:78816382 G
G
 A
A
 6 a0001c0001t0031g0324
a0001c0003t0002g0074
a0001c0003t0002g0082
others(3): Show 
a0001c0001t0031g0324
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0012g0166
a0001c0003t0022g0178
a0001c0018t0002g0016
 6 HG01109.hp2
HG01884.hp2
HG02109.hp1
others(3): Show 
HG01109.hp2
HG01884.hp2
HG02109.hp1
HG03130.hp2
HG03471.hp1
HG03471.hp2
 intron_variant MODIFIER c.1213+22974C>T
c.1213+22974C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78816382
chr5:78816383 G
G
 A
A
 1 a0001c0001t0003g0019
a0001c0001t0003g0019
 1 NA19088.hp2
NA19088.hp2
 intron_variant MODIFIER c.1213+22973C>T
c.1213+22973C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78816383
chr5:78816538 A
A
 G
G
 1 a0001c0001t0002g0277
a0001c0001t0002g0277
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.1213+22818T>C
c.1213+22818T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78816538
chr5:78816731 T
T
 C
C
 16 a0001c0001t0002g0005
a0001c0001t0003g0159
a0001c0001t0031g0324
others(13): Show 
a0001c0001t0002g0005
a0001c0001t0003g0159
a0001c0001t0031g0324
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0002g0276
a0001c0003t0006g0254
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0035g0357
a0001c0005t0076g0268
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0022t0006g0359
 16 HG01109.hp2
HG01884.hp2
HG02109.hp1
others(13): Show 
HG01109.hp2
HG01884.hp2
HG02109.hp1
HG02451.hp1
HG02559.hp1
HG02723.hp1
HG02886.hp1
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03471.hp2
NA19030.hp2
NA19043.hp2
NA20129.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1213+22625A>G
c.1213+22625A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78816731
chr5:78817048 G
G
 A
A
 1 a0002c0002t0026g0176
a0002c0002t0026g0176
 1 HG01978.hp2
HG01978.hp2
 intron_variant MODIFIER c.1213+22308C>T
c.1213+22308C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78817048
chr5:78817053 G
G
 A
A
 21 a0001c0001t0002g0143
a0001c0001t0008g0223
a0001c0001t0010g0244
others(18): Show 
a0001c0001t0002g0143
a0001c0001t0008g0223
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0014g0199
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0003t0002g0269
a0001c0003t0005g0060
a0001c0003t0028g0348
a0001c0007t0004g0100
a0002c0002t0001g0345
a0002c0002t0002g0179
a0002c0002t0002g0314
a0002c0002t0006g0211
a0002c0002t0012g0228
a0002c0002t0014g0106
a0002c0002t0026g0176
a0003c0004t0049g0139
a0004c0006t0016g0163
 21 HG00323.hp1
HG00544.hp1
HG00741.hp1
others(18): Show 
HG00323.hp1
HG00544.hp1
HG00741.hp1
HG01074.hp2
HG01346.hp2
HG01891.hp1
HG01978.hp2
HG02040.hp1
HG02683.hp2
HG03041.hp1
HG03540.hp2
HG03654.hp2
HG04115.hp2
NA18946.hp2
NA18978.hp1
NA18988.hp1
NA18993.hp1
NA19010.hp2
NA19030.hp1
NA19043.hp1
NA19068.hp1
 intron_variant MODIFIER c.1213+22303C>T
c.1213+22303C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78817053
chr5:78817108 C
C
 T
T
 13 a0001c0001t0002g0261
a0001c0003t0002g0013
a0001c0003t0002g0253
others(10): Show 
a0001c0001t0002g0261
a0001c0003t0002g0013
a0001c0003t0002g0253
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0012g0232
a0001c0003t0027g0114
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0005t0075g0112
a0001c0015t0027g0102
 13 HG00733.hp1
HG01168.hp2
HG01884.hp1
others(10): Show 
HG00733.hp1
HG01168.hp2
HG01884.hp1
HG02055.hp2
HG02559.hp2
HG02572.hp2
HG02622.hp1
HG02647.hp2
HG02717.hp1
HG02895.hp1
HG02976.hp1
HG03195.hp2
NA20300.hp1
 intron_variant MODIFIER c.1213+22248G>A
c.1213+22248G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78817108
chr5:78817157 T
T
 C
C
 3 a0001c0001t0004g0278
a0001c0001t0018g0130
a0001c0007t0068g0111
a0001c0001t0004g0278
a0001c0001t0018g0130
a0001c0007t0068g0111
 3 HG02622.hp2
HG02976.hp2
HG03041.hp2
HG02622.hp2
HG02976.hp2
HG03041.hp2
 intron_variant MODIFIER c.1213+22199A>G
c.1213+22199A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78817157
chr5:78817322 T
T
 C
C
 10 a0001c0001t0002g0005
a0001c0001t0003g0159
a0001c0003t0002g0276
others(7): Show 
a0001c0001t0002g0005
a0001c0001t0003g0159
a0001c0003t0002g0276
a0001c0003t0006g0254
a0001c0003t0012g0177
a0001c0003t0018g0057
a0001c0003t0035g0357
a0001c0005t0076g0268
a0001c0017t0002g0088
a0001c0022t0006g0359
 10 HG02451.hp1
HG02559.hp1
HG02723.hp1
others(7): Show 
HG02451.hp1
HG02559.hp1
HG02723.hp1
HG02886.hp1
HG03225.hp2
NA19030.hp2
NA19043.hp2
NA20129.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1213+22034A>G
c.1213+22034A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78817322
chr5:78817374 C
C
 T
T
 15 a0001c0001t0002g0143
a0001c0001t0008g0223
a0001c0001t0010g0244
others(12): Show 
a0001c0001t0002g0143
a0001c0001t0008g0223
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0014g0199
a0001c0001t0047g0043
a0001c0003t0005g0060
a0002c0002t0001g0345
a0002c0002t0002g0179
a0002c0002t0002g0314
a0002c0002t0006g0211
a0002c0002t0012g0228
a0002c0002t0014g0106
a0002c0002t0026g0176
a0004c0006t0016g0163
 15 HG00323.hp1
HG00544.hp1
HG01074.hp2
others(12): Show 
HG00323.hp1
HG00544.hp1
HG01074.hp2
HG01346.hp2
HG01978.hp2
HG02040.hp1
HG02683.hp2
HG03654.hp2
HG04115.hp2
NA18946.hp2
NA18978.hp1
NA18988.hp1
NA18993.hp1
NA19010.hp2
NA19068.hp1
 intron_variant MODIFIER c.1213+21982G>A
c.1213+21982G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78817374
chr5:78817381 A
A
 T
T
 1 a0001c0019t0022g0233
a0001c0019t0022g0233
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.1213+21975T>A
c.1213+21975T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78817381
chr5:78817403 A
A
 G
G
 115 a0001c0001t0001g0087
a0001c0001t0001g0135
a0001c0001t0001g0265
others(112): Show 
a0001c0001t0001g0087
a0001c0001t0001g0135
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0143
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0004g0238
a0001c0001t0004g0328
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0290
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0326
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0002g0269
a0001c0003t0002g0276
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0254
a0001c0003t0010g0157
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0015g0346
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0028g0348
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0179
a0002c0002t0002g0314
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0006g0211
a0002c0002t0012g0228
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0176
a0002c0002t0030g0304
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0055g0094
a0002c0002t0066g0355
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0154
a0003c0004t0002g0243
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0331
a0003c0004t0012g0123
a0003c0004t0049g0139
a0003c0014t0015g0202
a0004c0006t0016g0163
a0006c0020t0003g0127
 116 HG00140.hp1
HG00323.hp1
HG00423.hp1
others(113): Show 
HG00140.hp1
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00609.hp1
HG00609.hp2
HG00673.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01175.hp1
HG01243.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01993.hp1
HG02027.hp1
HG02040.hp1
HG02074.hp1
HG02080.hp1
HG02109.hp1
HG02293.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp1
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02886.hp1
HG02965.hp1
HG03017.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp1
NA18946.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18959.hp2
NA18961.hp2
NA18963.hp2
NA18968.hp2
NA18969.hp2
NA18975.hp2
NA18978.hp1
NA18979.hp2
NA18984.hp2
NA18988.hp1
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp2
NA19001.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19077.hp2
NA19085.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp2
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1213+21953T>C
c.1213+21953T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78817403
chr5:78817484 G
G
 A
A
 1 a0002c0002t0066g0355
a0002c0002t0066g0355
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.1213+21872C>T
c.1213+21872C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78817484
chr5:78817484 G
G
 C
C
 1 a0002c0002t0012g0228
a0002c0002t0012g0228
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.1213+21872C>G
c.1213+21872C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78817484
chr5:78817550 T
T
 C
C
 1 a0001c0003t0002g0262
a0001c0003t0002g0262
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.1213+21806A>G
c.1213+21806A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78817550
chr5:78817555 T
T
 C
C
 67 a0001c0001t0001g0135
a0001c0001t0002g0005
a0001c0001t0002g0039
others(64): Show 
a0001c0001t0001g0135
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0143
a0001c0001t0002g0317
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0008g0223
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0014g0199
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0059g0332
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0002g0269
a0001c0003t0002g0276
a0001c0003t0003g0050
a0001c0003t0005g0060
a0001c0003t0006g0254
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0035g0357
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0179
a0002c0002t0002g0314
a0002c0002t0004g0079
a0002c0002t0006g0211
a0002c0002t0012g0228
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0176
a0002c0002t0042g0224
a0002c0002t0055g0094
a0003c0004t0001g0154
a0003c0004t0002g0243
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0331
a0003c0004t0049g0139
a0004c0006t0016g0163
 67 HG00323.hp1
HG00423.hp1
HG00423.hp2
others(64): Show 
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00609.hp1
HG00609.hp2
HG00673.hp2
HG00741.hp1
HG01074.hp2
HG01109.hp2
HG01346.hp2
HG01884.hp2
HG01891.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp1
HG02080.hp1
HG02109.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp1
HG02683.hp2
HG02723.hp1
HG02886.hp1
HG03017.hp1
HG03041.hp1
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03927.hp2
HG04115.hp2
NA18946.hp2
NA18961.hp2
NA18963.hp2
NA18968.hp2
NA18978.hp1
NA18979.hp2
NA18984.hp2
NA18988.hp1
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19065.hp2
NA19068.hp1
NA20129.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1213+21801A>G
c.1213+21801A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78817555
chr5:78817673 G
G
 A
A
 1 a0001c0001t0008g0297
a0001c0001t0008g0297
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.1213+21683C>T
c.1213+21683C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78817673
chr5:78817765 C
C
 T
T
 4 a0001c0003t0012g0232
a0001c0003t0061g0252
a0001c0005t0017g0255
others(1): Show 
a0001c0003t0012g0232
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
 4 HG01884.hp1
HG02622.hp1
HG02895.hp1
others(1): Show 
HG01884.hp1
HG02622.hp1
HG02895.hp1
NA20300.hp1
 intron_variant MODIFIER c.1213+21591G>A
c.1213+21591G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78817765
chr5:78817908 G
G
 A
A
 1 a0001c0008t0008g0118
a0001c0008t0008g0118
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.1213+21448C>T
c.1213+21448C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78817908
chr5:78817910 C
C
 T
T
 11 a0001c0001t0002g0143
a0001c0001t0008g0223
a0001c0001t0010g0244
others(8): Show 
a0001c0001t0002g0143
a0001c0001t0008g0223
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0047g0043
a0001c0003t0005g0060
a0002c0002t0001g0345
a0002c0002t0002g0179
a0002c0002t0002g0314
a0002c0002t0012g0228
a0002c0002t0014g0106
 11 HG00544.hp1
HG02040.hp1
HG02683.hp2
others(8): Show 
HG00544.hp1
HG02040.hp1
HG02683.hp2
HG03654.hp2
HG04115.hp2
NA18946.hp2
NA18978.hp1
NA18988.hp1
NA18993.hp1
NA19010.hp2
NA19068.hp1
 intron_variant MODIFIER c.1213+21446G>A
c.1213+21446G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78817910
chr5:78817921 G
G
 A
A
 42 a0001c0001t0002g0039
a0001c0001t0002g0143
a0001c0001t0002g0317
others(39): Show 
a0001c0001t0002g0039
a0001c0001t0002g0143
a0001c0001t0002g0317
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0008g0223
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0014g0199
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0003t0002g0269
a0001c0003t0005g0060
a0001c0003t0028g0348
a0001c0007t0004g0100
a0002c0002t0001g0054
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0179
a0002c0002t0002g0314
a0002c0002t0004g0079
a0002c0002t0006g0211
a0002c0002t0012g0228
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0176
a0002c0002t0042g0224
a0002c0002t0055g0094
a0003c0004t0001g0154
a0003c0004t0002g0243
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0331
a0003c0004t0049g0139
a0004c0006t0016g0163
 42 HG00323.hp1
HG00423.hp1
HG00423.hp2
others(39): Show 
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00609.hp1
HG00609.hp2
HG00673.hp2
HG00741.hp1
HG01074.hp2
HG01346.hp2
HG01891.hp1
HG01978.hp2
HG02027.hp1
HG02040.hp1
HG02080.hp1
HG02523.hp1
HG02602.hp1
HG02683.hp2
HG03017.hp1
HG03041.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03927.hp2
HG04115.hp2
NA18946.hp2
NA18961.hp2
NA18963.hp2
NA18978.hp1
NA18979.hp2
NA18984.hp2
NA18988.hp1
NA18993.hp1
NA18993.hp2
NA18995.hp2
NA19010.hp2
NA19030.hp1
NA19043.hp1
NA19065.hp2
NA19068.hp1
 intron_variant MODIFIER c.1213+21435C>T
c.1213+21435C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78817921
chr5:78817999 T
T
 C
C
 1 a0001c0001t0002g0277
a0001c0001t0002g0277
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.1213+21357A>G
c.1213+21357A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78817999
chr5:78818135 A
A
 T
T
 45 a0001c0001t0002g0039
a0001c0001t0002g0143
a0001c0001t0002g0317
others(42): Show 
a0001c0001t0002g0039
a0001c0001t0002g0143
a0001c0001t0002g0317
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0008g0223
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0014g0199
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0003t0002g0269
a0001c0003t0003g0050
a0001c0003t0005g0060
a0001c0003t0028g0348
a0001c0007t0004g0100
a0002c0002t0001g0054
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0179
a0002c0002t0002g0314
a0002c0002t0004g0079
a0002c0002t0006g0211
a0002c0002t0012g0228
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0176
a0002c0002t0042g0224
a0002c0002t0055g0094
a0003c0004t0001g0154
a0003c0004t0002g0243
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0331
a0003c0004t0049g0139
a0004c0006t0016g0163
 45 HG00323.hp1
HG00423.hp1
HG00423.hp2
others(42): Show 
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00609.hp1
HG00609.hp2
HG00673.hp2
HG00741.hp1
HG01074.hp2
HG01346.hp2
HG01891.hp1
HG01978.hp2
HG02027.hp1
HG02040.hp1
HG02080.hp1
HG02523.hp1
HG02602.hp1
HG02683.hp2
HG03017.hp1
HG03041.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03927.hp2
HG04115.hp2
NA18946.hp2
NA18961.hp2
NA18963.hp2
NA18968.hp2
NA18978.hp1
NA18979.hp2
NA18984.hp2
NA18988.hp1
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp2
NA19010.hp2
NA19030.hp1
NA19043.hp1
NA19065.hp2
NA19068.hp1
 intron_variant MODIFIER c.1213+21221T>A
c.1213+21221T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78818135
chr5:78818140 T
T
 C
C
 4 a0001c0003t0016g0258
a0001c0005t0036g0275
a0001c0008t0002g0120
others(1): Show 
a0001c0003t0016g0258
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
 4 HG02615.hp1
HG02717.hp2
HG03195.hp1
others(1): Show 
HG02615.hp1
HG02717.hp2
HG03195.hp1
HG03540.hp1
 intron_variant MODIFIER c.1213+21216A>G
c.1213+21216A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78818140
chr5:78818150 T
T
 C
C
 4 a0001c0001t0002g0145
a0001c0001t0005g0235
a0001c0001t0008g0297
others(1): Show 
a0001c0001t0002g0145
a0001c0001t0005g0235
a0001c0001t0008g0297
a0001c0001t0010g0141
 4 HG00280.hp1
HG00558.hp1
NA18995.hp1
others(1): Show 
HG00280.hp1
HG00558.hp1
NA18995.hp1
NA19088.hp1
 intron_variant MODIFIER c.1213+21206A>G
c.1213+21206A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78818150
chr5:78818155 C
C
 T
T
 2 a0001c0003t0002g0338
a0001c0003t0014g0220
a0001c0003t0002g0338
a0001c0003t0014g0220
 2 HG02056.hp2
HG02155.hp2
HG02056.hp2
HG02155.hp2
 intron_variant MODIFIER c.1213+21201G>A
c.1213+21201G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78818155
chr5:78818215 G
G
 GCTAAGAT
others(173): Show 
GCTAAGATCTCTGTAGATCTCTGATACACGACTAAGATCTCTGGAGATCT
CTGATACACAACTAAGATCTCTGTAGATCTCTGATATACAACTAAGATCT
CTGTAGATCTCTGATACACAACTAAGATCTCTGTAGATCTCTGATACACA
ACTAAGATCTCTGTAGATCTCTGATATACAA
 1 a0002c0002t0038g0006
a0002c0002t0038g0006
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.1213+21140_1213+21
others(186): Show 
c.1213+21140_1213+21141insTTGTATATCAGAGATCTACAGAGA
TCTTAGTTGTGTATCAGAGATCTACAGAGATCTTAGTTGTGTATCAGAGA
TCTACAGAGATCTTAGTTGTATATCAGAGATCTACAGAGATCTTAGTTGT
GTATCAGAGATCTCCAGAGATCTTAGTCGTGTATCAGAGATCTACAGAGA
TCTTAG
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78818215
chr5:78818215 G
G
 GCTAAGAT
others(173): Show 
GCTAAGATCTCTGTAGATCTCTGATACACGACTAAGATCTCTGTAGATCT
CTGATACACAACTAAGATCTCTGTAGATCTCTGATATACAACTAAGATCT
CTGTAGATCTCTGATACACAACTAAGATCTCTGTAGATCTCTGATACACA
ACTAAGATCTCTGTAGATCTCTGATATACAA
 45 a0001c0001t0001g0087
a0001c0001t0001g0265
a0001c0001t0001g0289
others(42): Show 
a0001c0001t0001g0087
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0003g0019
a0001c0001t0003g0064
a0001c0001t0004g0238
a0001c0001t0004g0337
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0014g0189
a0001c0001t0020g0290
a0001c0001t0025g0316
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0051g0239
a0001c0003t0001g0326
a0001c0003t0003g0334
a0001c0003t0010g0157
a0001c0003t0015g0346
a0001c0003t0022g0229
a0001c0003t0046g0343
a0001c0005t0032g0117
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0336
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0030g0304
a0002c0002t0066g0355
a0002c0010t0003g0161
a0002c0010t0003g0322
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0004g0122
a0003c0004t0012g0123
a0003c0014t0015g0202
a0006c0020t0003g0127
 46 HG00140.hp1
HG00738.hp1
HG00741.hp2
others(43): Show 
HG00140.hp1
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01175.hp1
HG01243.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG01993.hp1
HG02293.hp1
HG02735.hp2
HG02738.hp2
HG02965.hp1
HG03490.hp1
HG03491.hp1
HG03654.hp1
HG03834.hp2
HG03942.hp1
HG04199.hp1
HG04204.hp1
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18959.hp2
NA18969.hp2
NA18975.hp2
NA19001.hp1
NA19063.hp1
NA19068.hp2
NA19077.hp2
NA19085.hp1
NA19088.hp2
 intron_variant MODIFIER c.1213+21140_1213+21
others(186): Show 
c.1213+21140_1213+21141insTTGTATATCAGAGATCTACAGAGA
TCTTAGTTGTGTATCAGAGATCTACAGAGATCTTAGTTGTGTATCAGAGA
TCTACAGAGATCTTAGTTGTATATCAGAGATCTACAGAGATCTTAGTTGT
GTATCAGAGATCTACAGAGATCTTAGTCGTGTATCAGAGATCTACAGAGA
TCTTAG
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78818215
chr5:78818215 G
G
 GCTAAGAT
others(173): Show 
GCTAAGATCTCTGTAGATCTCTGATACACGACTAAGATCTCTGTAGATCT
CTGATACACAACTAAGATCTCTGTAGATCTCTGATATACAACTAAGATCT
CTGTAGATCTCTGATATACAACTAAGATCTCTGTAGATCTCTGATACACA
ACTAAGATCTCTGTAGATCTCTGATATACAA
 5 a0001c0001t0002g0277
a0001c0001t0006g0219
a0001c0009t0016g0271
others(2): Show 
a0001c0001t0002g0277
a0001c0001t0006g0219
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0019t0022g0233
 5 HG01891.hp2
HG03098.hp2
HG03130.hp1
others(2): Show 
HG01891.hp2
HG03098.hp2
HG03130.hp1
HG03453.hp2
NA19240.hp1
 intron_variant MODIFIER c.1213+21140_1213+21
others(186): Show 
c.1213+21140_1213+21141insTTGTATATCAGAGATCTACAGAGA
TCTTAGTTGTGTATCAGAGATCTACAGAGATCTTAGTTGTATATCAGAGA
TCTACAGAGATCTTAGTTGTATATCAGAGATCTACAGAGATCTTAGTTGT
GTATCAGAGATCTACAGAGATCTTAGTCGTGTATCAGAGATCTACAGAGA
TCTTAG
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78818215
chr5:78818271 C
C
 CACAACTA
others(143): Show 
CACAACTAAGATCTCTGTAGATCTCTGATACACAACTAAGATCTCTGTAG
ATCTCTGATACACAACTAAGATCTCTGTAGATCTCTGATATACAACTAAG
ATCTCTGTAGATCTCTGATACACAACTAAGATCTCTGTAGATCTCTGATA
T
 3 a0001c0003t0008g0116
a0001c0003t0018g0260
a0001c0003t0031g0119
a0001c0003t0008g0116
a0001c0003t0018g0260
a0001c0003t0031g0119
 3 HG02818.hp2
HG03209.hp1
HG03486.hp1
HG02818.hp2
HG03209.hp1
HG03486.hp1
 intron_variant MODIFIER c.1213+21084_1213+21
others(156): Show 
c.1213+21084_1213+21085insATATCAGAGATCTACAGAGATCTT
AGTTGTGTATCAGAGATCTACAGAGATCTTAGTTGTATATCAGAGATCTA
CAGAGATCTTAGTTGTGTATCAGAGATCTACAGAGATCTTAGTTGTGTAT
CAGAGATCTACAGAGATCTTAGTTGT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78818271
chr5:78818271 C
C
 CACAACTA
others(203): Show 
CACAACTAAGATCTCTGTAGATCTCTGATATACAACTAAGATCTCTGTAG
ATCTCTGATACACAACTAAGATCTCTGTAGATCTCTGATACACAACTAAG
ATCTCTGTAGATCTCTGATACACAACTAAGATCTCTGTAGATCTCTGATA
TACAACTAAGATCTCTGTAGATCTCTGATACACAACTAAGATCTCTGTAG
ATCTCTGATAT
 1 a0001c0001t0003g0093
a0001c0001t0003g0093
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.1213+21084_1213+21
others(216): Show 
c.1213+21084_1213+21085insATATCAGAGATCTACAGAGATCTT
AGTTGTGTATCAGAGATCTACAGAGATCTTAGTTGTATATCAGAGATCTA
CAGAGATCTTAGTTGTGTATCAGAGATCTACAGAGATCTTAGTTGTGTAT
CAGAGATCTACAGAGATCTTAGTTGTGTATCAGAGATCTACAGAGATCTT
AGTTGTATATCAGAGATCTACAGAGATCTTAGTTGT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78818271
chr5:78818271 C
C
 CACAACTA
others(173): Show 
CACAACTAAGATCTCTGTAGATCTCTGATATACAACTAAGATCTCTGTAG
ATCTCTGATACACAACTAAGATCTCTGTAGATCTCTGATACACAACTAAG
ATCTCTGTAGATCTCTGATATACAACTAAGATCTCTGTAGATCTCTGATA
CACAACTAAGATCTCTGTAGATCTCTGATAT
 207 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(204): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0140
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0330
a0001c0001t0005g0041
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0356
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0141
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0034g0072
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0012g0089
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0016g0258
a0001c0003t0025g0341
a0001c0003t0028g0051
a0001c0003t0034g0071
a0001c0003t0041g0155
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0007t0036g0259
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0002c0002t0001g0069
a0002c0002t0001g0183
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0026g0086
a0002c0002t0030g0037
a0002c0002t0033g0217
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0001g0153
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0007g0152
a0003c0004t0011g0007
a0003c0004t0014g0164
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0007c0012t0032g0180
 207 HG00099.hp2
HG00280.hp1
HG00280.hp2
others(204): Show 
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp1
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18972.hp2
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18994.hp2
NA18995.hp1
NA19000.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+21084_1213+21
others(186): Show 
c.1213+21084_1213+21085insATATCAGAGATCTACAGAGATCTT
AGTTGTGTATCAGAGATCTACAGAGATCTTAGTTGTATATCAGAGATCTA
CAGAGATCTTAGTTGTGTATCAGAGATCTACAGAGATCTTAGTTGTGTAT
CAGAGATCTACAGAGATCTTAGTTGTATATCAGAGATCTACAGAGATCTT
AGTTGT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78818271
chr5:78818271 C
C
 CACAACTA
others(143): Show 
CACAACTAAGATCTCTGTAGATCTCTGATATACAACTAAGATCTCTGTAG
ATCTCTGATACACAACTAAGATCTCTGTAGATCTCTGATATACAACTAAG
ATCTCTGTAGATCTCTGATACACAACTAAGATCTCTGTAGATCTCTGATA
T
 3 a0001c0001t0004g0278
a0001c0001t0018g0130
a0001c0007t0068g0111
a0001c0001t0004g0278
a0001c0001t0018g0130
a0001c0007t0068g0111
 3 HG02622.hp2
HG02976.hp2
HG03041.hp2
HG02622.hp2
HG02976.hp2
HG03041.hp2
 intron_variant MODIFIER c.1213+21084_1213+21
others(156): Show 
c.1213+21084_1213+21085insATATCAGAGATCTACAGAGATCTT
AGTTGTGTATCAGAGATCTACAGAGATCTTAGTTGTATATCAGAGATCTA
CAGAGATCTTAGTTGTGTATCAGAGATCTACAGAGATCTTAGTTGTATAT
CAGAGATCTACAGAGATCTTAGTTGT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78818271
chr5:78818271 C
C
 CACAACTA
others(173): Show 
CACAACTAAGATCTCTGTAGATCTCTGATATACAACTAAGATCTCTGTAG
ATCTCTGATATACAACTAAGATCTCTGTAGATCTCTGATACACAACTAAG
ATCTCTGTAGATCTCTGATATACAACTAAGATCTCTGTAGATCTCTGATA
CACAACTAAGATCTCTGTAGATCTCTGATAT
 23 a0001c0001t0002g0261
a0001c0001t0003g0021
a0001c0001t0065g0017
others(20): Show 
a0001c0001t0002g0261
a0001c0001t0003g0021
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0253
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0009g0281
a0001c0003t0012g0232
a0001c0003t0027g0114
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0005t0075g0112
a0001c0015t0027g0102
a0002c0002t0001g0158
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0023g0162
a0002c0011t0053g0002
a0003c0004t0023g0148
a0003c0004t0023g0151
 23 HG00099.hp1
HG00140.hp2
HG00733.hp1
others(20): Show 
HG00099.hp1
HG00140.hp2
HG00733.hp1
HG00738.hp2
HG01070.hp1
HG01168.hp2
HG01884.hp1
HG02040.hp2
HG02055.hp2
HG02559.hp2
HG02572.hp2
HG02622.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02895.hp1
HG02976.hp1
HG03195.hp2
HG04184.hp1
NA18972.hp1
NA19066.hp2
NA20300.hp1
NA20805.hp1
 intron_variant MODIFIER c.1213+21084_1213+21
others(186): Show 
c.1213+21084_1213+21085insATATCAGAGATCTACAGAGATCTT
AGTTGTGTATCAGAGATCTACAGAGATCTTAGTTGTATATCAGAGATCTA
CAGAGATCTTAGTTGTGTATCAGAGATCTACAGAGATCTTAGTTGTATAT
CAGAGATCTACAGAGATCTTAGTTGTATATCAGAGATCTACAGAGATCTT
AGTTGT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78818271
chr5:78818271 C
C
 CACAACTA
others(173): Show 
CACAACTAAGATCTCTGTAGATCTCTGATATACAACTAAGATCTCTGTAG
ATCTCTGATATACAACTAAGATCTCTGTAGATCTCTGATATACAACTAAG
ATCTCTGTAGATCTCTGATATACAACTAAGATCTCTGTAGATCTCTGATA
CACAACTAAGATCTCTGTAGATCTCTGATAT
 1 a0001c0001t0007g0115
a0001c0001t0007g0115
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.1213+21084_1213+21
others(186): Show 
c.1213+21084_1213+21085insATATCAGAGATCTACAGAGATCTT
AGTTGTGTATCAGAGATCTACAGAGATCTTAGTTGTATATCAGAGATCTA
CAGAGATCTTAGTTGTATATCAGAGATCTACAGAGATCTTAGTTGTATAT
CAGAGATCTACAGAGATCTTAGTTGTATATCAGAGATCTACAGAGATCTT
AGTTGT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78818271
chr5:78818271 C
C
 CACAACTA
others(173): Show 
CACAACTAAGATCTCTGTAGATCTCTGATATACAACTAGGATCTCTATAG
ATCTCTGATACACAACTAAGATCTCTGTAGATCTCTGATACACAACTAAG
ATCTCTGTAGATCTCTGATATACAACTAAGATCTCTGTAGATCTCTGATA
CACAACTAAGATCTCTGTAGATCTCTGATAT
 1 a0002c0002t0055g0094
a0002c0002t0055g0094
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.1213+21084_1213+21
others(186): Show 
c.1213+21084_1213+21085insATATCAGAGATCTACAGAGATCTT
AGTTGTGTATCAGAGATCTACAGAGATCTTAGTTGTATATCAGAGATCTA
CAGAGATCTTAGTTGTGTATCAGAGATCTACAGAGATCTTAGTTGTGTAT
CAGAGATCTATAGAGATCCTAGTTGTATATCAGAGATCTACAGAGATCTT
AGTTGT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78818271
chr5:78818271 C
C
 CACAACTA
others(173): Show 
CACAACTAAGATCTCTGTAGATCTCTGATATACAACTAGGATCTCTGTAG
ATCTCTGATACACAACTAAGATCTCTGTAGATCTCTGATACACAACTAAG
ATCTCTGTAGATCTCTGATATACAACTAAGATCTCTGTAGATCTCTGATA
CACAACTAAGATCTCTGTAGATCTCTGATAT
 66 a0001c0001t0001g0135
a0001c0001t0002g0005
a0001c0001t0002g0039
others(63): Show 
a0001c0001t0001g0135
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0143
a0001c0001t0002g0317
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0008g0223
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0014g0199
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0059g0332
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0002g0269
a0001c0003t0002g0276
a0001c0003t0003g0050
a0001c0003t0005g0060
a0001c0003t0006g0254
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0035g0357
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0179
a0002c0002t0002g0314
a0002c0002t0004g0079
a0002c0002t0006g0211
a0002c0002t0012g0228
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0176
a0002c0002t0042g0224
a0003c0004t0001g0154
a0003c0004t0002g0243
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0331
a0003c0004t0049g0139
a0004c0006t0016g0163
 66 HG00323.hp1
HG00423.hp1
HG00423.hp2
others(63): Show 
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00609.hp1
HG00609.hp2
HG00673.hp2
HG00741.hp1
HG01074.hp2
HG01109.hp2
HG01346.hp2
HG01884.hp2
HG01891.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp1
HG02080.hp1
HG02109.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp1
HG02683.hp2
HG02723.hp1
HG02886.hp1
HG03017.hp1
HG03041.hp1
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03927.hp2
HG04115.hp2
NA18946.hp2
NA18961.hp2
NA18963.hp2
NA18968.hp2
NA18978.hp1
NA18979.hp2
NA18984.hp2
NA18988.hp1
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19065.hp2
NA19068.hp1
NA20129.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1213+21084_1213+21
others(186): Show 
c.1213+21084_1213+21085insATATCAGAGATCTACAGAGATCTT
AGTTGTGTATCAGAGATCTACAGAGATCTTAGTTGTATATCAGAGATCTA
CAGAGATCTTAGTTGTGTATCAGAGATCTACAGAGATCTTAGTTGTGTAT
CAGAGATCTACAGAGATCCTAGTTGTATATCAGAGATCTACAGAGATCTT
AGTTGT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78818271
chr5:78818271 C
C
 T
T
 51 a0001c0001t0001g0087
a0001c0001t0001g0265
a0001c0001t0001g0289
others(48): Show 
a0001c0001t0001g0087
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0002g0277
a0001c0001t0003g0019
a0001c0001t0003g0064
a0001c0001t0004g0238
a0001c0001t0004g0337
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0006g0219
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0014g0189
a0001c0001t0020g0290
a0001c0001t0025g0316
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0051g0239
a0001c0003t0001g0326
a0001c0003t0003g0334
a0001c0003t0010g0157
a0001c0003t0015g0346
a0001c0003t0022g0229
a0001c0003t0046g0343
a0001c0005t0032g0117
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0019t0022g0233
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0336
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0030g0304
a0002c0002t0038g0006
a0002c0002t0066g0355
a0002c0010t0003g0161
a0002c0010t0003g0322
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0004g0122
a0003c0004t0012g0123
a0003c0014t0015g0202
a0006c0020t0003g0127
 52 HG00140.hp1
HG00738.hp1
HG00741.hp2
others(49): Show 
HG00140.hp1
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01175.hp1
HG01243.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01891.hp2
HG01952.hp2
HG01993.hp1
HG02293.hp1
HG02735.hp2
HG02738.hp2
HG02965.hp1
HG03098.hp2
HG03130.hp1
HG03453.hp2
HG03490.hp1
HG03491.hp1
HG03654.hp1
HG03834.hp2
HG03942.hp1
HG04199.hp1
HG04204.hp1
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18959.hp2
NA18969.hp2
NA18975.hp2
NA19001.hp1
NA19063.hp1
NA19068.hp2
NA19077.hp2
NA19085.hp1
NA19088.hp2
NA19240.hp1
NA20752.hp1
 intron_variant MODIFIER c.1213+21085G>A
c.1213+21085G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78818271
chr5:78818273 C
C
 CAACTAAG
others(173): Show 
CAACTAAGATCTCTGTAGATCTCTGATATACAACTAAGATCTCTGTAGAT
CTCTGATACACAACTAAGATCTCTGTAGATCTCTGATACACAACTAAGAT
CTCTGTAGATCTCTGATATACAACTAAGATCTCTGTAGATCTCTGATACA
CAACTAAGATCTCTGTAGATCTCTGATATAT
 2 a0001c0001t0001g0035
a0002c0002t0005g0340
a0001c0001t0001g0035
a0002c0002t0005g0340
 2 NA18957.hp1
NA18969.hp1
NA18957.hp1
NA18969.hp1
 intron_variant MODIFIER c.1213+21082_1213+21
others(186): Show 
c.1213+21082_1213+21083insATATATCAGAGATCTACAGAGATC
TTAGTTGTGTATCAGAGATCTACAGAGATCTTAGTTGTATATCAGAGATC
TACAGAGATCTTAGTTGTGTATCAGAGATCTACAGAGATCTTAGTTGTGT
ATCAGAGATCTACAGAGATCTTAGTTGTATATCAGAGATCTACAGAGATC
TTAGTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78818273
chr5:78818417 C
C
 T
T
 1 a0001c0003t0012g0166
a0001c0003t0012g0166
 1 HG01109.hp2
HG01109.hp2
 intron_variant MODIFIER c.1213+20939G>A
c.1213+20939G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78818417
chr5:78818598 C
C
 CT
CT
 13 a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0003g0167
others(10): Show 
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0003g0167
a0001c0003t0002g0101
a0001c0003t0002g0276
a0001c0022t0006g0359
a0002c0002t0002g0056
a0002c0002t0004g0079
a0002c0002t0015g0053
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0042g0224
a0002c0002t0055g0094
 13 HG00423.hp1
HG00423.hp2
HG00609.hp1
others(10): Show 
HG00423.hp1
HG00423.hp2
HG00609.hp1
HG02027.hp1
HG02080.hp1
HG02559.hp1
HG03139.hp2
HG03516.hp1
HG03669.hp2
NA18961.hp2
NA18984.hp2
NA18995.hp2
NA19043.hp2
 intron_variant MODIFIER c.1213+20757dupA
c.1213+20757dupA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78818598
chr5:78818598 C
C
 CTTTTTTT
CTTTTTTT
 6 a0001c0001t0001g0135
a0001c0001t0005g0171
a0001c0001t0010g0107
others(3): Show 
a0001c0001t0001g0135
a0001c0001t0005g0171
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0059g0332
a0001c0003t0006g0254
 6 HG00438.hp2
HG01943.hp1
HG01975.hp1
others(3): Show 
HG00438.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02074.hp1
NA21309.hp2
 intron_variant MODIFIER c.1213+20751_1213+20
others(13): Show 
c.1213+20751_1213+20757dupAAAAAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78818598
chr5:78818598 CT
CT
 C
C
 42 a0001c0001t0001g0084
a0001c0001t0001g0265
a0001c0001t0001g0289
others(39): Show 
a0001c0001t0001g0084
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0335
a0001c0001t0002g0104
a0001c0001t0002g0145
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0003g0032
a0001c0001t0003g0256
a0001c0001t0004g0020
a0001c0001t0004g0330
a0001c0001t0006g0219
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0011g0026
a0001c0001t0013g0227
a0001c0001t0037g0059
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0002g0160
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0006g0267
a0001c0003t0007g0352
a0001c0003t0012g0089
a0001c0003t0012g0350
a0001c0003t0060g0210
a0001c0003t0073g0099
a0002c0002t0001g0069
a0002c0002t0003g0247
a0002c0002t0006g0211
a0002c0002t0012g0228
a0002c0002t0014g0106
a0002c0002t0019g0052
a0002c0002t0026g0176
a0002c0002t0066g0355
a0002c0002t0071g0280
a0003c0004t0007g0152
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
 42 HG00544.hp2
HG00741.hp1
HG00741.hp2
others(39): Show 
HG00544.hp2
HG00741.hp1
HG00741.hp2
HG01175.hp1
HG01243.hp1
HG01261.hp2
HG01346.hp2
HG01358.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp2
HG02071.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02615.hp2
HG02647.hp1
HG02735.hp2
HG02738.hp2
HG02886.hp2
HG03098.hp2
HG03453.hp1
HG03453.hp2
HG03579.hp2
HG03942.hp1
NA18943.hp1
NA18970.hp1
NA18970.hp2
NA18978.hp1
NA18985.hp2
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19000.hp2
NA19011.hp1
NA19030.hp1
NA19066.hp1
NA19068.hp1
 intron_variant MODIFIER c.1213+20757delA
c.1213+20757delA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78818598
chr5:78818598 CTT
CTT
 C
C
 179 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(176): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0019
a0001c0001t0003g0034
a0001c0001t0003g0064
a0001c0001t0003g0140
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0337
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0007g0333
a0001c0001t0008g0036
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0141
a0001c0001t0010g0244
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0212
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0010g0157
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0034g0071
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0032g0117
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0077g0070
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0019t0022g0233
a0002c0002t0001g0183
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0306
a0002c0002t0003g0336
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0030g0304
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0064g0285
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0187
a0003c0004t0004g0122
a0003c0004t0012g0123
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0049g0139
a0003c0004t0062g0133
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
a0007c0012t0032g0180
 180 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(177): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02155.hp2
HG02293.hp1
HG02293.hp2
HG02523.hp2
HG02602.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03710.hp1
HG03834.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18983.hp1
NA18984.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18994.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19068.hp2
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1213+20756_1213+20
others(8): Show 
c.1213+20756_1213+20757delAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78818598
chr5:78818598 CTTT
CTTT
 C
C
 10 a0001c0001t0001g0245
a0001c0001t0001g0321
a0001c0001t0004g0009
others(7): Show 
a0001c0001t0001g0245
a0001c0001t0001g0321
a0001c0001t0004g0009
a0001c0001t0011g0105
a0002c0002t0006g0191
a0002c0002t0009g0121
a0003c0004t0003g0292
a0003c0004t0011g0007
a0003c0004t0014g0164
a0003c0004t0054g0142
 10 HG00642.hp1
HG01975.hp2
HG01993.hp2
others(7): Show 
HG00642.hp1
HG01975.hp2
HG01993.hp2
HG02280.hp1
HG03209.hp2
NA18960.hp1
NA18960.hp2
NA18983.hp2
NA19003.hp2
NA19074.hp1
 intron_variant MODIFIER c.1213+20755_1213+20
others(9): Show 
c.1213+20755_1213+20757delAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78818598
chr5:78818598 CTTTTTTT
others(4): Show 
CTTTTTTTTTTT
 C
C
 31 a0001c0001t0003g0021
a0001c0001t0003g0214
a0001c0001t0004g0278
others(28): Show 
a0001c0001t0003g0021
a0001c0001t0003g0214
a0001c0001t0004g0278
a0001c0001t0008g0040
a0001c0001t0031g0324
a0001c0001t0065g0017
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0002g0253
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0031g0119
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0005t0075g0112
a0001c0007t0068g0111
a0001c0018t0002g0016
a0002c0002t0001g0158
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0023g0162
a0002c0002t0030g0037
a0002c0011t0053g0002
a0003c0004t0023g0148
a0003c0004t0023g0151
 31 HG00099.hp1
HG00140.hp2
HG00738.hp2
others(28): Show 
HG00099.hp1
HG00140.hp2
HG00738.hp2
HG01070.hp1
HG01109.hp2
HG01884.hp1
HG01884.hp2
HG02040.hp2
HG02109.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02818.hp2
HG02895.hp1
HG02976.hp1
HG02976.hp2
HG03130.hp2
HG03209.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG04184.hp1
NA18942.hp1
NA18972.hp1
NA19004.hp1
NA19066.hp2
NA20300.hp1
NA20805.hp1
 intron_variant MODIFIER c.1213+20747_1213+20
others(17): Show 
c.1213+20747_1213+20757delAAAAAAAAAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78818598
chr5:78818598 CTTTTTTT
others(5): Show 
CTTTTTTTTTTTT
 C
C
 48 a0001c0001t0001g0263
a0001c0001t0003g0063
a0001c0001t0003g0093
others(45): Show 
a0001c0001t0001g0263
a0001c0001t0003g0063
a0001c0001t0003g0093
a0001c0001t0004g0058
a0001c0001t0005g0208
a0001c0001t0007g0115
a0001c0001t0008g0030
a0001c0001t0008g0279
a0001c0001t0010g0264
a0001c0001t0011g0046
a0001c0001t0013g0329
a0001c0001t0018g0130
a0001c0001t0034g0072
a0001c0003t0002g0270
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0016g0258
a0001c0003t0041g0155
a0001c0003t0058g0045
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0002c0002t0002g0186
a0002c0002t0003g0225
a0002c0002t0003g0319
a0002c0002t0005g0318
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0294
a0002c0002t0013g0216
a0002c0002t0026g0086
a0002c0002t0033g0217
a0002c0002t0063g0198
a0002c0002t0067g0203
a0003c0004t0002g0128
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0033g0282
a0004c0006t0016g0221
a0005c0016t0002g0237
 48 HG00323.hp2
HG00621.hp1
HG00642.hp2
others(45): Show 
HG00323.hp2
HG00621.hp1
HG00642.hp2
HG00733.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01358.hp2
HG01361.hp1
HG01517.hp1
HG02155.hp1
HG02280.hp2
HG02572.hp1
HG02615.hp1
HG02717.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03579.hp1
HG03834.hp1
HG03927.hp1
HG04184.hp2
HG04199.hp2
NA18947.hp2
NA18948.hp1
NA18953.hp2
NA18986.hp1
NA19009.hp2
NA19062.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+20746_1213+20
others(18): Show 
c.1213+20746_1213+20757delAAAAAAAAAAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78818598
chr5:78818598 CTTTTTTT
others(6): Show 
CTTTTTTTTTTTTT
 C
C
 6 a0001c0001t0002g0261
a0001c0003t0002g0013
a0001c0003t0002g0349
others(3): Show 
a0001c0001t0002g0261
a0001c0003t0002g0013
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0027g0114
a0001c0015t0027g0102
 6 HG00733.hp1
HG01168.hp2
HG02055.hp2
others(3): Show 
HG00733.hp1
HG01168.hp2
HG02055.hp2
HG02572.hp2
HG02717.hp1
HG03195.hp2
 intron_variant MODIFIER c.1213+20745_1213+20
others(19): Show 
c.1213+20745_1213+20757delAAAAAAAAAAAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78818598
chr5:78818598 CTTTTTTT
others(7): Show 
CTTTTTTTTTTTTTT
 C
C
 1 a0001c0003t0002g0262
a0001c0003t0002g0262
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.1213+20744_1213+20
others(20): Show 
c.1213+20744_1213+20757delAAAAAAAAAAAAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78818598
chr5:78818725 C
C
 T
T
 1 a0001c0003t0002g0320
a0001c0003t0002g0320
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.1213+20631G>A
c.1213+20631G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78818725
chr5:78818763 G
G
 A
A
 71 a0001c0001t0001g0263
a0001c0001t0003g0021
a0001c0001t0003g0063
others(68): Show 
a0001c0001t0001g0263
a0001c0001t0003g0021
a0001c0001t0003g0063
a0001c0001t0003g0093
a0001c0001t0003g0214
a0001c0001t0004g0058
a0001c0001t0004g0278
a0001c0001t0005g0208
a0001c0001t0007g0115
a0001c0001t0008g0030
a0001c0001t0008g0040
a0001c0001t0008g0279
a0001c0001t0010g0264
a0001c0001t0011g0046
a0001c0001t0013g0329
a0001c0001t0018g0130
a0001c0001t0034g0072
a0001c0001t0065g0017
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0031g0119
a0001c0003t0041g0155
a0001c0003t0058g0045
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0002c0002t0001g0158
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0002g0186
a0002c0002t0003g0225
a0002c0002t0003g0319
a0002c0002t0005g0318
a0002c0002t0006g0126
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0294
a0002c0002t0013g0216
a0002c0002t0023g0162
a0002c0002t0026g0086
a0002c0002t0030g0037
a0002c0002t0033g0217
a0002c0002t0063g0198
a0002c0011t0053g0002
a0003c0004t0002g0128
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0033g0282
a0004c0006t0016g0221
a0005c0016t0002g0237
 71 HG00099.hp1
HG00140.hp2
HG00323.hp2
others(68): Show 
HG00099.hp1
HG00140.hp2
HG00323.hp2
HG00621.hp1
HG00642.hp2
HG00733.hp2
HG00738.hp2
HG01070.hp1
HG01109.hp1
HG01168.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01358.hp2
HG01361.hp1
HG01517.hp1
HG01884.hp1
HG02040.hp2
HG02155.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03209.hp1
HG03486.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03579.hp1
HG03834.hp1
HG03927.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp2
NA18942.hp1
NA18947.hp2
NA18948.hp1
NA18953.hp2
NA18972.hp1
NA18986.hp1
NA19004.hp1
NA19009.hp2
NA19062.hp2
NA19066.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+20593C>T
c.1213+20593C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78818763
chr5:78818923 C
C
 T
T
 6 a0001c0001t0002g0261
a0001c0003t0002g0013
a0001c0003t0002g0349
others(3): Show 
a0001c0001t0002g0261
a0001c0003t0002g0013
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0027g0114
a0001c0015t0027g0102
 6 HG00733.hp1
HG01168.hp2
HG02055.hp2
others(3): Show 
HG00733.hp1
HG01168.hp2
HG02055.hp2
HG02572.hp2
HG02717.hp1
HG03195.hp2
 intron_variant MODIFIER c.1213+20433G>A
c.1213+20433G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78818923
chr5:78818954 G
G
 A
A
 2 a0001c0001t0007g0250
a0001c0005t0032g0117
a0001c0001t0007g0250
a0001c0005t0032g0117
 2 HG01243.hp1
HG02965.hp1
HG01243.hp1
HG02965.hp1
 intron_variant MODIFIER c.1213+20402C>T
c.1213+20402C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78818954
chr5:78819005 G
G
 A
A
 1 a0002c0002t0026g0176
a0002c0002t0026g0176
 1 HG01978.hp2
HG01978.hp2
 intron_variant MODIFIER c.1213+20351C>T
c.1213+20351C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78819005
chr5:78819116 G
G
 A
A
 5 a0001c0003t0016g0258
a0001c0003t0073g0099
a0001c0005t0036g0275
others(2): Show 
a0001c0003t0016g0258
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
 5 HG02615.hp1
HG02615.hp2
HG02717.hp2
others(2): Show 
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG03195.hp1
HG03540.hp1
 intron_variant MODIFIER c.1213+20240C>T
c.1213+20240C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78819116
chr5:78819133 G
G
 A
A
 2 a0002c0002t0001g0287
a0002c0002t0009g0121
a0002c0002t0001g0287
a0002c0002t0009g0121
 2 NA18975.hp1
NA19003.hp2
NA18975.hp1
NA19003.hp2
 intron_variant MODIFIER c.1213+20223C>T
c.1213+20223C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78819133
chr5:78819214 A
A
 C
C
 1 a0002c0002t0006g0206
a0002c0002t0006g0206
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.1213+20142T>G
c.1213+20142T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78819214
chr5:78819606 C
C
 T
T
 1 a0002c0002t0011g0230
a0002c0002t0011g0230
 1 HG02132.hp2
HG02132.hp2
 intron_variant MODIFIER c.1213+19750G>A
c.1213+19750G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78819606
chr5:78819688 A
A
 G
G
 50 a0001c0001t0001g0321
a0001c0001t0002g0039
a0001c0001t0002g0218
others(47): Show 
a0001c0001t0001g0321
a0001c0001t0002g0039
a0001c0001t0002g0218
a0001c0001t0002g0317
a0001c0001t0003g0159
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0006g0356
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0008g0030
a0001c0001t0059g0332
a0001c0003t0002g0101
a0001c0003t0006g0267
a0001c0003t0007g0352
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0015g0346
a0001c0003t0028g0348
a0001c0003t0035g0357
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0076g0268
a0002c0002t0001g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0006g0211
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0025g0213
a0002c0002t0030g0037
a0002c0002t0042g0224
a0003c0004t0002g0243
a0003c0004t0003g0292
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0072g0323
a0004c0006t0016g0163
 50 HG00323.hp1
HG00423.hp1
HG00423.hp2
others(47): Show 
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00609.hp2
HG00642.hp1
HG00673.hp2
HG01243.hp1
HG01346.hp2
HG01884.hp1
HG01891.hp1
HG02027.hp1
HG02055.hp1
HG02074.hp1
HG02145.hp1
HG02145.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp2
HG02622.hp1
HG02698.hp2
HG02723.hp1
HG02886.hp2
HG02895.hp1
HG02965.hp1
HG03017.hp1
HG03225.hp2
HG03453.hp1
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp2
HG03669.hp1
HG03710.hp2
HG03942.hp1
NA18906.hp2
NA18943.hp1
NA18963.hp2
NA18979.hp2
NA18984.hp2
NA18993.hp2
NA18995.hp2
NA19004.hp1
NA19009.hp2
NA19030.hp2
NA19043.hp1
NA19074.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.1213+19668T>C
c.1213+19668T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78819688
chr5:78819959 G
G
 C
C
 1 a0002c0002t0011g0234
a0002c0002t0011g0234
 1 NA18612.hp1
NA18612.hp1
 intron_variant MODIFIER c.1213+19397C>G
c.1213+19397C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78819959
chr5:78820087 T
T
 C
C
 1 a0001c0001t0004g0278
a0001c0001t0004g0278
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.1213+19269A>G
c.1213+19269A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78820087
chr5:78820187 C
C
 T
T
 1 a0003c0004t0062g0133
a0003c0004t0062g0133
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.1213+19169G>A
c.1213+19169G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78820187
chr5:78820313 C
C
 G
G
 284 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(281): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0018g0130
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0334
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0032g0117
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0294
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0221
a0004c0006t0024g0061
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 285 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(282): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+19043G>C
c.1213+19043G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78820313
chr5:78820433 C
C
 T
T
 2 a0001c0003t0002g0253
a0001c0005t0075g0112
a0001c0003t0002g0253
a0001c0005t0075g0112
 2 HG02647.hp2
HG02976.hp1
HG02647.hp2
HG02976.hp1
 intron_variant MODIFIER c.1213+18923G>A
c.1213+18923G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78820433
chr5:78820453 C
C
 T
T
 1 a0001c0001t0003g0093
a0001c0001t0003g0093
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.1213+18903G>A
c.1213+18903G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78820453
chr5:78820454 G
G
 T
T
 39 a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
others(36): Show 
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0005g0208
a0001c0001t0008g0030
a0001c0001t0008g0279
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0034g0072
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0058g0045
a0001c0021t0003g0358
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0005g0318
a0002c0002t0006g0126
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0294
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0063g0198
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0003g0283
a0003c0004t0033g0282
a0003c0004t0049g0139
 39 HG00621.hp1
HG00642.hp2
HG00673.hp1
others(36): Show 
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01358.hp2
HG01517.hp1
HG02109.hp2
HG02129.hp1
HG02155.hp1
HG02280.hp2
HG02523.hp2
HG02622.hp2
HG02738.hp1
HG02818.hp1
HG03041.hp1
HG03098.hp1
HG03927.hp1
HG04199.hp1
NA18612.hp1
NA18941.hp2
NA18948.hp1
NA18949.hp2
NA18953.hp2
NA18959.hp1
NA18989.hp2
NA19000.hp1
NA19009.hp2
NA19043.hp1
NA19057.hp2
NA19062.hp2
NA19068.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+18902C>A
c.1213+18902C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78820454
chr5:78820567 G
G
 GA
GA
 24 a0001c0001t0002g0092
a0001c0001t0003g0256
a0001c0001t0004g0238
others(21): Show 
a0001c0001t0002g0092
a0001c0001t0003g0256
a0001c0001t0004g0238
a0001c0001t0010g0244
a0001c0001t0014g0199
a0001c0001t0021g0347
a0001c0003t0002g0101
a0001c0003t0003g0050
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0069g0273
a0002c0002t0001g0231
a0002c0002t0001g0345
a0002c0002t0002g0179
a0002c0002t0002g0314
a0002c0002t0003g0137
a0002c0002t0005g0241
a0002c0002t0006g0211
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0026g0176
a0002c0002t0066g0355
a0004c0006t0016g0163
 24 HG00323.hp1
HG00544.hp1
HG00741.hp2
others(21): Show 
HG00323.hp1
HG00544.hp1
HG00741.hp2
HG01074.hp2
HG01346.hp2
HG01978.hp2
HG02040.hp1
HG02572.hp1
HG02683.hp2
HG02895.hp2
HG02897.hp1
HG03139.hp2
HG03516.hp1
HG03654.hp2
NA18953.hp1
NA18963.hp1
NA18979.hp1
NA18988.hp1
NA18992.hp1
NA18994.hp1
NA19000.hp2
NA19065.hp1
NA19084.hp1
NA19085.hp2
 intron_variant MODIFIER c.1213+18788dupT
c.1213+18788dupT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78820567
chr5:78820918 T
T
 C
C
 3 a0001c0001t0002g0201
a0001c0001t0003g0293
a0001c0001t0011g0242
a0001c0001t0002g0201
a0001c0001t0003g0293
a0001c0001t0011g0242
 3 NA18972.hp2
NA18988.hp2
NA18989.hp1
NA18972.hp2
NA18988.hp2
NA18989.hp1
 intron_variant MODIFIER c.1213+18438A>G
c.1213+18438A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78820918
chr5:78820949 C
C
 A
A
 36 a0001c0001t0001g0265
a0001c0001t0002g0092
a0001c0001t0003g0019
others(33): Show 
a0001c0001t0001g0265
a0001c0001t0002g0092
a0001c0001t0003g0019
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0004g0238
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0013g0227
a0001c0001t0020g0290
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0001g0326
a0001c0003t0002g0101
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0069g0273
a0002c0002t0003g0336
a0002c0002t0008g0311
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0004g0122
a0003c0004t0012g0123
a0004c0006t0016g0221
a0004c0006t0024g0175
a0006c0020t0003g0127
 37 HG00738.hp1
HG01069.hp2
HG01071.hp2
others(34): Show 
HG00738.hp1
HG01069.hp2
HG01071.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01952.hp2
HG01993.hp1
HG02027.hp1
HG02293.hp1
HG02572.hp1
HG02735.hp1
HG02895.hp2
HG02897.hp1
HG03139.hp2
HG03490.hp1
HG03516.hp1
HG03834.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18959.hp2
NA18961.hp2
NA18969.hp2
NA18975.hp2
NA18985.hp2
NA18986.hp2
NA19077.hp2
NA19088.hp2
 intron_variant MODIFIER c.1213+18407G>T
c.1213+18407G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78820949
chr5:78820971 T
T
 C
C
 206 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0289
others(203): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0289
a0001c0001t0001g0315
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0021
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0279
a0001c0001t0010g0018
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0352
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0048g0266
a0001c0003t0058g0045
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0158
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0079
a0002c0002t0005g0042
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0026g0176
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0005c0016t0002g0237
a0007c0012t0032g0180
 206 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(203): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02155.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18946.hp1
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18953.hp2
NA18954.hp1
NA18959.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18972.hp1
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18989.hp2
NA18992.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19062.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19084.hp1
NA19085.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+18385A>G
c.1213+18385A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78820971
chr5:78820980 T
T
 TA
TA
 187 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0289
others(184): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0289
a0001c0001t0001g0315
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0021
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0328
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0279
a0001c0001t0010g0018
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0034g0072
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0058g0045
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0019t0022g0233
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0158
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0129
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0079
a0002c0002t0005g0042
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0026g0176
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0005c0016t0002g0237
a0007c0012t0032g0180
 187 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(184): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01943.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02074.hp2
HG02080.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02155.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18946.hp1
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18953.hp2
NA18954.hp1
NA18959.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18972.hp1
NA18978.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18989.hp2
NA18992.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp2
NA19062.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+18375dupT
c.1213+18375dupT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78820980
chr5:78820994 T
T
 G
G
 1 a0002c0002t0012g0228
a0002c0002t0012g0228
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.1213+18362A>C
c.1213+18362A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78820994
chr5:78821151 C
C
 T
T
 111 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0289
others(108): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0289
a0001c0001t0001g0315
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0021
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0339
a0001c0001t0004g0328
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0007g0181
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0010g0018
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0014g0199
a0001c0001t0019g0249
a0001c0001t0031g0324
a0001c0001t0040g0288
a0001c0001t0065g0017
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0028g0051
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0048g0266
a0001c0003t0069g0273
a0001c0005t0076g0268
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0158
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0137
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0019g0052
a0002c0002t0026g0176
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0055g0094
a0002c0002t0066g0355
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0014t0015g0202
a0004c0006t0016g0163
a0005c0016t0002g0237
 111 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(108): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00673.hp2
HG00741.hp2
HG01074.hp2
HG01109.hp2
HG01346.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01978.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02135.hp1
HG02258.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04184.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp1
NA18946.hp1
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18954.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18972.hp1
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18992.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19084.hp1
NA19085.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1213+18205G>A
c.1213+18205G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78821151
chr5:78821196 C
C
 T
T
 1 a0001c0001t0011g0105
a0001c0001t0011g0105
 1 NA18983.hp2
NA18983.hp2
 intron_variant MODIFIER c.1213+18160G>A
c.1213+18160G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78821196
chr5:78821310 G
G
 A
A
 8 a0001c0001t0007g0250
a0001c0003t0018g0057
a0001c0003t0070g0251
others(5): Show 
a0001c0001t0007g0250
a0001c0003t0018g0057
a0001c0003t0070g0251
a0001c0005t0074g0073
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0019t0022g0233
a0002c0002t0006g0014
 8 HG01243.hp1
HG01891.hp2
HG02896.hp1
others(5): Show 
HG01243.hp1
HG01891.hp2
HG02896.hp1
HG02965.hp2
HG03130.hp1
HG03579.hp1
NA19240.hp1
NA20129.hp2
 intron_variant MODIFIER c.1213+18046C>T
c.1213+18046C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78821310
chr5:78821433 G
G
 A
A
 5 a0001c0001t0001g0289
a0001c0001t0040g0288
a0001c0003t0010g0157
others(2): Show 
a0001c0001t0001g0289
a0001c0001t0040g0288
a0001c0003t0010g0157
a0001c0003t0041g0155
a0003c0014t0015g0202
 5 HG00323.hp2
HG01515.hp2
HG02735.hp2
others(2): Show 
HG00323.hp2
HG01515.hp2
HG02735.hp2
HG02738.hp2
HG03654.hp1
 intron_variant MODIFIER c.1213+17923C>T
c.1213+17923C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78821433
chr5:78821449 T
T
 C
C
 4 a0001c0001t0002g0104
a0001c0001t0011g0105
a0001c0001t0020g0028
others(1): Show 
a0001c0001t0002g0104
a0001c0001t0011g0105
a0001c0001t0020g0028
a0002c0002t0009g0080
 4 NA18983.hp2
NA19009.hp1
NA19066.hp1
others(1): Show 
NA18983.hp2
NA19009.hp1
NA19066.hp1
NA19074.hp2
 intron_variant MODIFIER c.1213+17907A>G
c.1213+17907A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78821449
chr5:78821591 A
A
 G
G
 1 a0002c0002t0042g0224
a0002c0002t0042g0224
 1 HG00423.hp2
HG00423.hp2
 intron_variant MODIFIER c.1213+17765T>C
c.1213+17765T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78821591
chr5:78821650 T
T
 A
A
 21 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
others(18): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0007g0181
a0001c0003t0015g0346
a0002c0002t0001g0054
a0002c0002t0001g0158
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0042g0224
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0004g0149
a0003c0004t0004g0150
 21 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(18): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00609.hp2
HG00673.hp2
HG02523.hp1
HG02698.hp1
HG02698.hp2
HG03017.hp1
HG03017.hp2
HG03491.hp1
HG03669.hp1
HG03710.hp2
HG03942.hp1
NA18943.hp1
NA18963.hp2
NA18979.hp2
NA18984.hp2
NA18993.hp2
NA18995.hp2
 intron_variant MODIFIER c.1213+17706A>T
c.1213+17706A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78821650
chr5:78821672 T
T
 C
C
 1 a0002c0002t0006g0206
a0002c0002t0006g0206
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.1213+17684A>G
c.1213+17684A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78821672
chr5:78821681 G
G
 A
A
 5 a0001c0001t0005g0208
a0001c0001t0013g0329
a0002c0002t0003g0225
others(2): Show 
a0001c0001t0005g0208
a0001c0001t0013g0329
a0002c0002t0003g0225
a0002c0002t0003g0319
a0002c0002t0005g0318
 5 HG00621.hp1
HG02155.hp1
NA18948.hp1
others(2): Show 
HG00621.hp1
HG02155.hp1
NA18948.hp1
NA18953.hp2
NA19062.hp2
 intron_variant MODIFIER c.1213+17675C>T
c.1213+17675C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78821681
chr5:78821695 A
A
 G
G
 1 a0004c0006t0016g0221
a0004c0006t0016g0221
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.1213+17661T>C
c.1213+17661T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78821695
chr5:78821761 A
A
 G
G
 206 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0289
others(203): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0289
a0001c0001t0001g0315
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0021
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0279
a0001c0001t0010g0018
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0352
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0048g0266
a0001c0003t0058g0045
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0158
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0079
a0002c0002t0005g0042
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0026g0176
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0005c0016t0002g0237
a0007c0012t0032g0180
 206 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(203): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02155.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18946.hp1
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18953.hp2
NA18954.hp1
NA18959.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18972.hp1
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18989.hp2
NA18992.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19062.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19084.hp1
NA19085.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+17595T>C
c.1213+17595T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78821761
chr5:78821871 G
G
 A
A
 1 a0001c0001t0001g0265
a0001c0001t0001g0265
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.1213+17485C>T
c.1213+17485C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78821871
chr5:78821930 T
T
 C
C
 2 a0001c0003t0018g0057
a0001c0005t0074g0073
a0001c0003t0018g0057
a0001c0005t0074g0073
 2 HG03579.hp1
NA20129.hp2
HG03579.hp1
NA20129.hp2
 intron_variant MODIFIER c.1213+17426A>G
c.1213+17426A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78821930
chr5:78821935 T
T
 G
G
 1 a0001c0003t0060g0210
a0001c0003t0060g0210
 1 HG00544.hp2
HG00544.hp2
 intron_variant MODIFIER c.1213+17421A>C
c.1213+17421A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78821935
chr5:78821951 G
G
 A
A
 1 a0001c0003t0009g0281
a0001c0003t0009g0281
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.1213+17405C>T
c.1213+17405C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78821951
chr5:78822243 A
A
 C
C
 96 a0001c0001t0001g0335
a0001c0001t0002g0218
a0001c0001t0002g0261
others(93): Show 
a0001c0001t0001g0335
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0279
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0018g0130
a0001c0001t0034g0072
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0002g0013
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0103
a0001c0003t0007g0352
a0001c0003t0012g0089
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0034g0071
a0001c0003t0058g0045
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0019t0022g0233
a0001c0021t0003g0358
a0002c0002t0002g0125
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0129
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0294
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0002g0128
a0003c0004t0003g0283
a0003c0004t0007g0152
a0003c0004t0033g0282
a0003c0004t0049g0139
a0004c0006t0004g0188
a0004c0006t0004g0215
a0005c0016t0002g0237
a0007c0012t0032g0180
 96 HG00621.hp1
HG00642.hp2
HG00673.hp1
others(93): Show 
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00741.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01496.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01943.hp2
HG01975.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02155.hp1
HG02258.hp2
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02523.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02717.hp1
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp1
HG03942.hp2
HG04199.hp1
NA18612.hp1
NA18941.hp2
NA18948.hp1
NA18949.hp2
NA18953.hp2
NA18959.hp1
NA18989.hp2
NA19000.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp2
NA19062.hp2
NA19068.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+17113T>G
c.1213+17113T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78822243
chr5:78822420 T
T
 C
C
 1 a0001c0001t0006g0356
a0001c0001t0006g0356
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1213+16936A>G
c.1213+16936A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78822420
chr5:78822779 A
A
 G
G
 96 a0001c0001t0001g0335
a0001c0001t0002g0218
a0001c0001t0002g0261
others(93): Show 
a0001c0001t0001g0335
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0279
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0018g0130
a0001c0001t0034g0072
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0002g0013
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0103
a0001c0003t0007g0352
a0001c0003t0012g0089
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0034g0071
a0001c0003t0058g0045
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0019t0022g0233
a0001c0021t0003g0358
a0002c0002t0002g0125
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0129
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0294
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0002g0128
a0003c0004t0003g0283
a0003c0004t0007g0152
a0003c0004t0033g0282
a0003c0004t0049g0139
a0004c0006t0004g0188
a0004c0006t0004g0215
a0005c0016t0002g0237
a0007c0012t0032g0180
 96 HG00621.hp1
HG00642.hp2
HG00673.hp1
others(93): Show 
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00741.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01496.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01943.hp2
HG01975.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02155.hp1
HG02258.hp2
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02523.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02717.hp1
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp1
HG03942.hp2
HG04199.hp1
NA18612.hp1
NA18941.hp2
NA18948.hp1
NA18949.hp2
NA18953.hp2
NA18959.hp1
NA18989.hp2
NA19000.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp2
NA19062.hp2
NA19068.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+16577T>C
c.1213+16577T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78822779
chr5:78822891 C
C
 A
A
 15 a0001c0001t0031g0324
a0001c0003t0002g0074
a0001c0003t0002g0082
others(12): Show 
a0001c0001t0031g0324
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0002g0276
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0166
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0022t0006g0359
 15 HG01109.hp2
HG01884.hp2
HG02109.hp1
others(12): Show 
HG01109.hp2
HG01884.hp2
HG02109.hp1
HG02559.hp1
HG02647.hp1
HG02886.hp1
HG02896.hp2
HG02897.hp2
HG03130.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
NA18906.hp1
NA19043.hp2
NA21309.hp2
 intron_variant MODIFIER c.1213+16465G>T
c.1213+16465G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78822891
chr5:78822915 C
C
 T
T
 1 a0002c0002t0001g0310
a0002c0002t0001g0310
 1 HG02074.hp2
HG02074.hp2
 intron_variant MODIFIER c.1213+16441G>A
c.1213+16441G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78822915
chr5:78822952 T
T
 G
G
 1 a0001c0003t0058g0045
a0001c0003t0058g0045
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.1213+16404A>C
c.1213+16404A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78822952
chr5:78823327 G
G
 A
A
 1 a0002c0002t0055g0094
a0002c0002t0055g0094
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.1213+16029C>T
c.1213+16029C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78823327
chr5:78823442 C
C
 T
T
 5 a0001c0001t0001g0289
a0001c0001t0040g0288
a0001c0003t0010g0157
others(2): Show 
a0001c0001t0001g0289
a0001c0001t0040g0288
a0001c0003t0010g0157
a0001c0003t0041g0155
a0003c0014t0015g0202
 5 HG00323.hp2
HG01515.hp2
HG02735.hp2
others(2): Show 
HG00323.hp2
HG01515.hp2
HG02735.hp2
HG02738.hp2
HG03654.hp1
 intron_variant MODIFIER c.1213+15914G>A
c.1213+15914G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78823442
chr5:78823684 CA
CA
 C
C
 3 a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0019t0022g0233
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0019t0022g0233
 3 HG01891.hp2
HG03130.hp1
NA19240.hp1
HG01891.hp2
HG03130.hp1
NA19240.hp1
 intron_variant MODIFIER c.1213+15671delT
c.1213+15671delT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78823684
chr5:78823824 G
G
 A
A
 1 a0001c0003t0002g0253
a0001c0003t0002g0253
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.1213+15532C>T
c.1213+15532C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78823824
chr5:78823919 C
C
 A
A
 1 a0002c0002t0011g0234
a0002c0002t0011g0234
 1 NA18612.hp1
NA18612.hp1
 intron_variant MODIFIER c.1213+15437G>T
c.1213+15437G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78823919
chr5:78823955 A
A
 AG
AG
 15 a0001c0001t0031g0324
a0001c0003t0002g0074
a0001c0003t0002g0082
others(12): Show 
a0001c0001t0031g0324
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0002g0276
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0166
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0022t0006g0359
 15 HG01109.hp2
HG01884.hp2
HG02109.hp1
others(12): Show 
HG01109.hp2
HG01884.hp2
HG02109.hp1
HG02559.hp1
HG02647.hp1
HG02886.hp1
HG02896.hp2
HG02897.hp2
HG03130.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
NA18906.hp1
NA19043.hp2
NA21309.hp2
 intron_variant MODIFIER c.1213+15400dupC
c.1213+15400dupC
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78823955
chr5:78823958 G
G
 A
A
 2 a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0168
a0001c0001t0001g0169
 2 NA18952.hp2
NA19077.hp1
NA18952.hp2
NA19077.hp1
 intron_variant MODIFIER c.1213+15398C>T
c.1213+15398C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78823958
chr5:78823963 C
C
 T
T
 2 a0002c0002t0001g0310
a0002c0002t0007g0313
a0002c0002t0001g0310
a0002c0002t0007g0313
 2 HG02074.hp2
NA19002.hp1
HG02074.hp2
NA19002.hp1
 intron_variant MODIFIER c.1213+15393G>A
c.1213+15393G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78823963
chr5:78823981 G
G
 A
A
 95 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0289
others(92): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0289
a0001c0001t0001g0315
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0021
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0339
a0001c0001t0004g0328
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0007g0181
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0010g0018
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0014g0199
a0001c0001t0019g0249
a0001c0001t0040g0288
a0001c0001t0065g0017
a0001c0003t0002g0101
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0177
a0001c0003t0015g0346
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0069g0273
a0001c0005t0076g0268
a0002c0002t0001g0054
a0002c0002t0001g0158
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0137
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0019g0052
a0002c0002t0026g0176
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0055g0094
a0002c0002t0066g0355
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0014t0015g0202
a0004c0006t0016g0163
 95 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(92): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00673.hp2
HG00741.hp2
HG01074.hp2
HG01346.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01978.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp2
HG02080.hp1
HG02135.hp1
HG02258.hp1
HG02451.hp1
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02895.hp2
HG02897.hp1
HG03017.hp1
HG03017.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04184.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp1
NA18946.hp1
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18954.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18972.hp1
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18992.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19011.hp2
NA19030.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19084.hp1
NA19085.hp2
NA21309.hp1
 intron_variant MODIFIER c.1213+15375C>T
c.1213+15375C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78823981
chr5:78824009 G
G
 C
C
 8 a0001c0001t0002g0317
a0002c0002t0001g0054
a0002c0002t0002g0055
others(5): Show 
a0001c0001t0002g0317
a0002c0002t0001g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0042g0224
 8 HG00423.hp2
HG00609.hp2
NA18943.hp1
others(5): Show 
HG00423.hp2
HG00609.hp2
NA18943.hp1
NA18963.hp2
NA18979.hp2
NA18984.hp2
NA18993.hp2
NA18995.hp2
 intron_variant MODIFIER c.1213+15347C>G
c.1213+15347C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78824009
chr5:78824801 AACAATG
AACAATG
 A
A
 7 a0001c0003t0002g0013
a0001c0003t0002g0349
a0001c0003t0002g0351
others(4): Show 
a0001c0003t0002g0013
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0103
a0001c0003t0027g0114
a0001c0003t0034g0071
a0001c0015t0027g0102
 7 HG00733.hp1
HG01168.hp2
HG02055.hp2
others(4): Show 
HG00733.hp1
HG01168.hp2
HG02055.hp2
HG02572.hp2
HG02922.hp2
HG03139.hp1
HG03195.hp2
 intron_variant MODIFIER c.1213+14549_1213+14
others(12): Show 
c.1213+14549_1213+14554delCATTGT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78824801
chr5:78825761 G
G
 A
A
 3 a0001c0001t0001g0265
a0001c0001t0024g0182
a0004c0006t0024g0175
a0001c0001t0001g0265
a0001c0001t0024g0182
a0004c0006t0024g0175
 3 HG01258.hp1
HG01261.hp2
HG01361.hp2
HG01258.hp1
HG01261.hp2
HG01361.hp2
 intron_variant MODIFIER c.1213+13595C>T
c.1213+13595C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78825761
chr5:78826041 T
T
 C
C
 3 a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0019t0022g0233
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0019t0022g0233
 3 HG01891.hp2
HG03130.hp1
NA19240.hp1
HG01891.hp2
HG03130.hp1
NA19240.hp1
 intron_variant MODIFIER c.1213+13315A>G
c.1213+13315A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78826041
chr5:78826042 C
C
 A
A
 5 a0001c0003t0018g0057
a0001c0005t0074g0073
a0001c0009t0016g0271
others(2): Show 
a0001c0003t0018g0057
a0001c0005t0074g0073
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0019t0022g0233
 5 HG01891.hp2
HG03130.hp1
HG03579.hp1
others(2): Show 
HG01891.hp2
HG03130.hp1
HG03579.hp1
NA19240.hp1
NA20129.hp2
 intron_variant MODIFIER c.1213+13314G>T
c.1213+13314G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78826042
chr5:78826053 C
C
 CT
CT
 87 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0289
others(84): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0289
a0001c0001t0001g0315
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0021
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0339
a0001c0001t0004g0328
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0010g0018
a0001c0001t0010g0264
a0001c0001t0019g0249
a0001c0001t0040g0288
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0262
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0006g0103
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0177
a0001c0003t0015g0346
a0001c0003t0027g0114
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0070g0251
a0001c0005t0076g0268
a0001c0015t0027g0102
a0002c0002t0001g0054
a0002c0002t0001g0158
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0004g0079
a0002c0002t0006g0014
a0002c0002t0006g0206
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0009g0309
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0019g0052
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0055g0094
a0002c0010t0003g0161
a0002c0011t0053g0002
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0049g0139
a0003c0014t0015g0202
 87 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(84): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00673.hp2
HG00733.hp1
HG01168.hp2
HG01243.hp1
HG01515.hp2
HG01517.hp2
HG02040.hp2
HG02055.hp2
HG02074.hp2
HG02080.hp1
HG02135.hp1
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02572.hp2
HG02602.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04184.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp1
NA18946.hp1
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18954.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18972.hp1
NA18978.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19065.hp2
NA19066.hp2
NA21309.hp1
 intron_variant MODIFIER c.1213+13302dupA
c.1213+13302dupA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78826053
chr5:78826053 CT
CT
 C
C
 7 a0001c0003t0016g0258
a0001c0003t0073g0099
a0001c0005t0032g0117
others(4): Show 
a0001c0003t0016g0258
a0001c0003t0073g0099
a0001c0005t0032g0117
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0009g0080
 7 HG02615.hp1
HG02615.hp2
HG02717.hp2
others(4): Show 
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02965.hp1
HG03195.hp1
HG03540.hp1
NA19074.hp2
 intron_variant MODIFIER c.1213+13302delA
c.1213+13302delA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78826053
chr5:78826073 G
G
 GTCTC
GTCTC
 3 a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
 3 NA18943.hp2
NA18963.hp1
NA18978.hp2
NA18943.hp2
NA18963.hp1
NA18978.hp2
 intron_variant MODIFIER c.1213+13279_1213+13
others(10): Show 
c.1213+13279_1213+13282dupGAGA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78826073
chr5:78826143 T
T
 C
C
 1 a0001c0003t0001g0326
a0001c0003t0001g0326
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.1213+13213A>G
c.1213+13213A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78826143
chr5:78826210 C
C
 T
T
 1 a0003c0004t0054g0142
a0003c0004t0054g0142
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.1213+13146G>A
c.1213+13146G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78826210
chr5:78826293 C
C
 T
T
 93 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0289
others(90): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0289
a0001c0001t0001g0315
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0021
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0339
a0001c0001t0004g0328
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0010g0018
a0001c0001t0010g0264
a0001c0001t0019g0249
a0001c0001t0031g0324
a0001c0001t0040g0288
a0001c0001t0065g0017
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0028g0051
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0048g0266
a0001c0003t0070g0251
a0001c0005t0076g0268
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0158
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0004g0079
a0002c0002t0006g0014
a0002c0002t0006g0206
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0009g0309
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0019g0052
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0055g0094
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0014t0015g0202
a0005c0016t0002g0237
 93 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(90): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00673.hp2
HG01109.hp2
HG01243.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG02040.hp2
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02135.hp1
HG02258.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp1
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG03017.hp1
HG03130.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04184.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp1
NA18946.hp1
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18954.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18972.hp1
NA18978.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19065.hp2
NA19066.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1213+13063G>A
c.1213+13063G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78826293
chr5:78826358 T
T
 C
C
 1 a0002c0002t0001g0298
a0002c0002t0001g0298
 1 NA18985.hp1
NA18985.hp1
 intron_variant MODIFIER c.1213+12998A>G
c.1213+12998A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78826358
chr5:78826582 C
C
 T
T
 15 a0001c0001t0031g0324
a0001c0003t0002g0074
a0001c0003t0002g0082
others(12): Show 
a0001c0001t0031g0324
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0002g0276
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0166
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0022t0006g0359
 15 HG01109.hp2
HG01884.hp2
HG02109.hp1
others(12): Show 
HG01109.hp2
HG01884.hp2
HG02109.hp1
HG02559.hp1
HG02647.hp1
HG02886.hp1
HG02896.hp2
HG02897.hp2
HG03130.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
NA18906.hp1
NA19043.hp2
NA21309.hp2
 intron_variant MODIFIER c.1213+12774G>A
c.1213+12774G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78826582
chr5:78826937 A
A
 G
G
 9 a0001c0001t0002g0261
a0001c0003t0002g0013
a0001c0003t0002g0262
others(6): Show 
a0001c0001t0002g0261
a0001c0003t0002g0013
a0001c0003t0002g0262
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0103
a0001c0003t0027g0114
a0001c0003t0034g0071
a0001c0015t0027g0102
 9 HG00733.hp1
HG01168.hp2
HG02055.hp2
others(6): Show 
HG00733.hp1
HG01168.hp2
HG02055.hp2
HG02451.hp2
HG02572.hp2
HG02717.hp1
HG02922.hp2
HG03139.hp1
HG03195.hp2
 intron_variant MODIFIER c.1213+12419T>C
c.1213+12419T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78826937
chr5:78827041 C
C
 G
G
 1 a0001c0005t0035g0165
a0001c0005t0035g0165
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.1213+12315G>C
c.1213+12315G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78827041
chr5:78827293 CT
CT
 C
C
 5 a0001c0003t0018g0057
a0001c0005t0074g0073
a0001c0009t0016g0271
others(2): Show 
a0001c0003t0018g0057
a0001c0005t0074g0073
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0019t0022g0233
 5 HG01891.hp2
HG03130.hp1
HG03579.hp1
others(2): Show 
HG01891.hp2
HG03130.hp1
HG03579.hp1
NA19240.hp1
NA20129.hp2
 intron_variant MODIFIER c.1213+12062delA
c.1213+12062delA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78827293
chr5:78827302 C
C
 T
T
 1 a0001c0001t0004g0058
a0001c0001t0004g0058
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1213+12054G>A
c.1213+12054G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78827302
chr5:78827319 C
C
 G
G
 3 a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0069g0273
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0069g0273
 3 HG02572.hp1
HG02895.hp2
HG02897.hp1
HG02572.hp1
HG02895.hp2
HG02897.hp1
 intron_variant MODIFIER c.1213+12037G>C
c.1213+12037G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78827319
chr5:78827399 C
C
 T
T
 92 a0001c0001t0001g0335
a0001c0001t0002g0218
a0001c0001t0002g0261
others(89): Show 
a0001c0001t0001g0335
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0279
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0018g0130
a0001c0001t0034g0072
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0002g0013
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0103
a0001c0003t0007g0352
a0001c0003t0012g0089
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0034g0071
a0001c0003t0058g0045
a0001c0003t0061g0252
a0001c0003t0073g0099
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0019t0022g0233
a0001c0021t0003g0358
a0002c0002t0002g0125
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0129
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0294
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0002g0128
a0003c0004t0003g0283
a0003c0004t0007g0152
a0003c0004t0033g0282
a0003c0004t0049g0139
a0004c0006t0004g0188
a0004c0006t0004g0215
a0007c0012t0032g0180
 92 HG00621.hp1
HG00642.hp2
HG00673.hp1
others(89): Show 
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00741.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01496.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01943.hp2
HG01975.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02155.hp1
HG02258.hp2
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02523.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02717.hp1
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp1
HG03942.hp2
HG04199.hp1
NA18612.hp1
NA18941.hp2
NA18948.hp1
NA18949.hp2
NA18953.hp2
NA18959.hp1
NA18989.hp2
NA19000.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp2
NA19062.hp2
NA19068.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+11957G>A
c.1213+11957G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78827399
chr5:78827409 C
C
 A
A
 1 a0004c0006t0024g0061
a0004c0006t0024g0061
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.1213+11947G>T
c.1213+11947G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78827409
chr5:78827661 T
T
 C
C
 111 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0289
others(108): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0289
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0021
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0339
a0001c0001t0004g0328
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0010g0018
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0014g0199
a0001c0001t0019g0249
a0001c0001t0031g0324
a0001c0001t0040g0288
a0001c0001t0065g0017
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0028g0051
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0048g0266
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0005t0076g0268
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0158
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0137
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0006g0014
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0019g0052
a0002c0002t0026g0176
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0055g0094
a0002c0002t0066g0355
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0154
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0014t0015g0202
a0004c0006t0016g0163
a0005c0016t0002g0237
 111 HG00099.hp1
HG00140.hp2
HG00323.hp1
others(108): Show 
HG00099.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00673.hp2
HG00741.hp2
HG01074.hp2
HG01109.hp2
HG01243.hp1
HG01346.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01978.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02135.hp1
HG02258.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04184.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp1
NA18946.hp1
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18954.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18972.hp1
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18992.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19084.hp1
NA19085.hp2
NA21309.hp2
 intron_variant MODIFIER c.1213+11695A>G
c.1213+11695A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78827661
chr5:78827862 A
A
 AT
AT
 8 a0001c0001t0007g0250
a0001c0003t0070g0251
a0001c0005t0035g0165
others(5): Show 
a0001c0001t0007g0250
a0001c0003t0070g0251
a0001c0005t0035g0165
a0001c0015t0027g0102
a0002c0002t0006g0014
a0002c0010t0003g0161
a0002c0010t0003g0322
a0005c0016t0002g0237
 8 HG01243.hp1
HG01515.hp1
HG01517.hp2
others(5): Show 
HG01243.hp1
HG01515.hp1
HG01517.hp2
HG02055.hp2
HG02559.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp2
 intron_variant MODIFIER c.1213+11493dupA
c.1213+11493dupA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78827862
chr5:78827947 T
T
 C
C
 1 a0003c0004t0062g0133
a0003c0004t0062g0133
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.1213+11409A>G
c.1213+11409A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78827947
chr5:78828084 A
A
 T
T
 42 a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
others(39): Show 
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0004g0337
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0008g0030
a0001c0001t0008g0279
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0034g0072
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0058g0045
a0001c0021t0003g0358
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0005g0318
a0002c0002t0006g0126
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0294
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0063g0198
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0003g0283
a0003c0004t0033g0282
a0003c0004t0049g0139
 42 HG00621.hp1
HG00642.hp2
HG00673.hp1
others(39): Show 
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01358.hp2
HG01517.hp1
HG02109.hp2
HG02129.hp1
HG02155.hp1
HG02280.hp2
HG02523.hp2
HG02622.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03834.hp2
HG03927.hp1
HG04199.hp1
NA18612.hp1
NA18941.hp2
NA18948.hp1
NA18949.hp2
NA18953.hp2
NA18959.hp1
NA18989.hp2
NA19000.hp1
NA19009.hp2
NA19043.hp1
NA19057.hp2
NA19062.hp2
NA19068.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+11272T>A
c.1213+11272T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78828084
chr5:78828115 C
C
 T
T
 15 a0001c0001t0031g0324
a0001c0003t0002g0074
a0001c0003t0002g0082
others(12): Show 
a0001c0001t0031g0324
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0002g0276
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0166
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0022t0006g0359
 15 HG01109.hp2
HG01884.hp2
HG02109.hp1
others(12): Show 
HG01109.hp2
HG01884.hp2
HG02109.hp1
HG02559.hp1
HG02647.hp1
HG02886.hp1
HG02896.hp2
HG02897.hp2
HG03130.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
NA18906.hp1
NA19043.hp2
NA21309.hp2
 intron_variant MODIFIER c.1213+11241G>A
c.1213+11241G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78828115
chr5:78828206 T
T
 C
C
 39 a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
others(36): Show 
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0005g0208
a0001c0001t0008g0030
a0001c0001t0008g0279
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0034g0072
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0058g0045
a0001c0021t0003g0358
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0005g0318
a0002c0002t0006g0126
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0294
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0063g0198
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0003g0283
a0003c0004t0033g0282
a0003c0004t0049g0139
 39 HG00621.hp1
HG00642.hp2
HG00673.hp1
others(36): Show 
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01358.hp2
HG01517.hp1
HG02109.hp2
HG02129.hp1
HG02155.hp1
HG02280.hp2
HG02523.hp2
HG02622.hp2
HG02738.hp1
HG02818.hp1
HG03041.hp1
HG03098.hp1
HG03927.hp1
HG04199.hp1
NA18612.hp1
NA18941.hp2
NA18948.hp1
NA18949.hp2
NA18953.hp2
NA18959.hp1
NA18989.hp2
NA19000.hp1
NA19009.hp2
NA19043.hp1
NA19057.hp2
NA19062.hp2
NA19068.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+11150A>G
c.1213+11150A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78828206
chr5:78828226 GTGTATTT
others(20): Show 
GTGTATTTTTAAAAATTTTGAGCTTTTC
 G
G
 11 a0001c0001t0004g0009
a0001c0001t0018g0130
a0001c0001t0043g0090
others(8): Show 
a0001c0001t0004g0009
a0001c0001t0018g0130
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0012g0232
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0007t0004g0100
a0001c0007t0068g0111
 11 HG00741.hp1
HG01884.hp1
HG02559.hp2
others(8): Show 
HG00741.hp1
HG01884.hp1
HG02559.hp2
HG02622.hp1
HG02895.hp1
HG02976.hp2
HG03041.hp2
HG03209.hp2
HG03540.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.1213+11103_1213+11
others(33): Show 
c.1213+11103_1213+11129delGAAAAGCTCAAAATTTTTAAAAAT
ACA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78828226
chr5:78828255 G
G
 A
A
 7 a0001c0003t0002g0013
a0001c0003t0002g0349
a0001c0003t0002g0351
others(4): Show 
a0001c0003t0002g0013
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0103
a0001c0003t0027g0114
a0001c0003t0034g0071
a0001c0015t0027g0102
 7 HG00733.hp1
HG01168.hp2
HG02055.hp2
others(4): Show 
HG00733.hp1
HG01168.hp2
HG02055.hp2
HG02572.hp2
HG02922.hp2
HG03139.hp1
HG03195.hp2
 intron_variant MODIFIER c.1213+11101C>T
c.1213+11101C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78828255
chr5:78828362 C
C
 T
T
 26 a0001c0001t0001g0035
a0001c0001t0001g0135
a0001c0001t0004g0330
others(23): Show 
a0001c0001t0001g0035
a0001c0001t0001g0135
a0001c0001t0004g0330
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0003g0334
a0001c0003t0014g0220
a0001c0003t0022g0229
a0001c0003t0060g0210
a0002c0002t0001g0069
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0003g0068
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0030g0037
a0003c0004t0014g0164
 26 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(23): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01993.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02155.hp2
NA18944.hp1
NA18951.hp2
NA18957.hp1
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18985.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19063.hp1
NA19084.hp2
NA19085.hp1
 intron_variant MODIFIER c.1213+10994G>A
c.1213+10994G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78828362
chr5:78828394 C
C
 A
A
 1 a0002c0002t0001g0158
a0002c0002t0001g0158
 1 HG00099.hp1
HG00099.hp1
 intron_variant MODIFIER c.1213+10962G>T
c.1213+10962G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78828394
chr5:78828610 CTTTCAAC
others(11): Show 
CTTTCAACTGTTATCTGAT
 C
C
 1 a0001c0001t0001g0321
a0001c0001t0001g0321
 1 NA19074.hp1
NA19074.hp1
 intron_variant MODIFIER c.1213+10728_1213+10
others(24): Show 
c.1213+10728_1213+10745delATCAGATAACAGTTGAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78828610
chr5:78828769 TC
TC
 T
T
 92 a0001c0001t0001g0335
a0001c0001t0002g0218
a0001c0001t0002g0261
others(89): Show 
a0001c0001t0001g0335
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0279
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0018g0130
a0001c0001t0034g0072
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0002g0013
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0103
a0001c0003t0007g0352
a0001c0003t0012g0089
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0034g0071
a0001c0003t0058g0045
a0001c0003t0061g0252
a0001c0003t0073g0099
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0019t0022g0233
a0001c0021t0003g0358
a0002c0002t0002g0125
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0129
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0294
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0002g0128
a0003c0004t0003g0283
a0003c0004t0007g0152
a0003c0004t0033g0282
a0003c0004t0049g0139
a0004c0006t0004g0188
a0004c0006t0004g0215
a0007c0012t0032g0180
 92 HG00621.hp1
HG00642.hp2
HG00673.hp1
others(89): Show 
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00741.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01168.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01496.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01943.hp2
HG01975.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02155.hp1
HG02258.hp2
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02523.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02717.hp1
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp1
HG03942.hp2
HG04199.hp1
NA18612.hp1
NA18941.hp2
NA18948.hp1
NA18949.hp2
NA18953.hp2
NA18959.hp1
NA18989.hp2
NA19000.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp2
NA19062.hp2
NA19068.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+10586delG
c.1213+10586delG
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78828769
chr5:78828857 A
A
 G
G
 1 a0001c0001t0001g0110
a0001c0001t0001g0110
 1 NA19062.hp1
NA19062.hp1
 intron_variant MODIFIER c.1213+10499T>C
c.1213+10499T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78828857
chr5:78828858 A
A
 G
G
 1 a0001c0001t0006g0356
a0001c0001t0006g0356
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1213+10498T>C
c.1213+10498T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78828858
chr5:78828871 T
T
 G
G
 4 a0001c0001t0004g0009
a0001c0001t0043g0090
a0001c0001t0044g0091
others(1): Show 
a0001c0001t0004g0009
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0007t0004g0100
 4 HG00741.hp1
HG03209.hp2
HG03540.hp2
others(1): Show 
HG00741.hp1
HG03209.hp2
HG03540.hp2
NA19030.hp1
 intron_variant MODIFIER c.1213+10485A>C
c.1213+10485A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78828871
chr5:78828943 A
A
 C
C
 1 a0001c0001t0007g0115
a0001c0001t0007g0115
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.1213+10413T>G
c.1213+10413T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78828943
chr5:78828980 A
A
 C
C
 30 a0001c0001t0001g0289
a0001c0001t0002g0092
a0001c0001t0002g0277
others(27): Show 
a0001c0001t0001g0289
a0001c0001t0002g0092
a0001c0001t0002g0277
a0001c0001t0010g0244
a0001c0001t0014g0199
a0001c0001t0025g0316
a0001c0001t0040g0288
a0001c0003t0002g0101
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0010g0157
a0001c0003t0041g0155
a0001c0003t0069g0273
a0002c0002t0001g0231
a0002c0002t0001g0345
a0002c0002t0002g0179
a0002c0002t0002g0314
a0002c0002t0003g0137
a0002c0002t0005g0241
a0002c0002t0006g0211
a0002c0002t0008g0311
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0018g0308
a0002c0002t0026g0176
a0002c0002t0066g0355
a0003c0014t0015g0202
a0004c0006t0016g0163
a0004c0006t0016g0221
 30 HG00323.hp1
HG00323.hp2
HG00544.hp1
others(27): Show 
HG00323.hp1
HG00323.hp2
HG00544.hp1
HG00741.hp2
HG01074.hp2
HG01346.hp2
HG01515.hp2
HG01978.hp2
HG02040.hp1
HG02572.hp1
HG02683.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02895.hp2
HG02897.hp1
HG03139.hp2
HG03453.hp2
HG03516.hp1
HG03654.hp1
HG03654.hp2
NA18959.hp2
NA18961.hp2
NA18979.hp1
NA18986.hp2
NA18988.hp1
NA18992.hp1
NA19065.hp1
NA19084.hp1
NA19085.hp2
 intron_variant MODIFIER c.1213+10376T>G
c.1213+10376T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78828980
chr5:78829211 C
C
 T
T
 5 a0001c0001t0001g0289
a0001c0001t0040g0288
a0001c0003t0010g0157
others(2): Show 
a0001c0001t0001g0289
a0001c0001t0040g0288
a0001c0003t0010g0157
a0001c0003t0041g0155
a0003c0014t0015g0202
 5 HG00323.hp2
HG01515.hp2
HG02735.hp2
others(2): Show 
HG00323.hp2
HG01515.hp2
HG02735.hp2
HG02738.hp2
HG03654.hp1
 intron_variant MODIFIER c.1213+10145G>A
c.1213+10145G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78829211
chr5:78829862 T
T
 G
G
 8 a0001c0001t0001g0289
a0001c0001t0040g0288
a0001c0003t0006g0156
others(5): Show 
a0001c0001t0001g0289
a0001c0001t0040g0288
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0010g0157
a0001c0003t0041g0155
a0001c0003t0069g0273
a0003c0014t0015g0202
 8 HG00323.hp2
HG01515.hp2
HG02572.hp1
others(5): Show 
HG00323.hp2
HG01515.hp2
HG02572.hp1
HG02735.hp2
HG02738.hp2
HG02895.hp2
HG02897.hp1
HG03654.hp1
 intron_variant MODIFIER c.1213+9494A>C
c.1213+9494A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78829862
chr5:78830252 C
C
 T
T
 1 a0001c0001t0019g0249
a0001c0001t0019g0249
 1 NA19011.hp2
NA19011.hp2
 intron_variant MODIFIER c.1213+9104G>A
c.1213+9104G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78830252
chr5:78830288 C
C
 T
T
 1 a0001c0001t0034g0072
a0001c0001t0034g0072
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1213+9068G>A
c.1213+9068G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78830288
chr5:78830458 C
C
 T
T
 124 a0001c0001t0001g0289
a0001c0001t0002g0005
a0001c0001t0002g0317
others(121): Show 
a0001c0001t0001g0289
a0001c0001t0002g0005
a0001c0001t0002g0317
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0337
a0001c0001t0006g0356
a0001c0001t0008g0279
a0001c0001t0013g0329
a0001c0001t0021g0174
a0001c0001t0031g0324
a0001c0001t0040g0288
a0001c0003t0002g0253
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0009g0281
a0001c0003t0012g0177
a0001c0003t0015g0346
a0001c0003t0018g0057
a0001c0003t0028g0348
a0001c0003t0035g0357
a0001c0003t0058g0045
a0001c0003t0069g0273
a0001c0003t0073g0099
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0287
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0314
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0050g0008
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0012g0123
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0072g0323
a0005c0016t0002g0237
a0007c0012t0032g0180
 125 HG00099.hp2
HG00280.hp2
HG00408.hp1
others(122): Show 
HG00099.hp2
HG00280.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp2
HG01975.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02109.hp2
HG02145.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp1
HG02976.hp1
HG03017.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp2
HG03453.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04204.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18970.hp1
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+8898G>A
c.1213+8898G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78830458
chr5:78830552 C
C
 T
T
 5 a0001c0001t0001g0289
a0001c0001t0002g0005
a0001c0001t0004g0278
others(2): Show 
a0001c0001t0001g0289
a0001c0001t0002g0005
a0001c0001t0004g0278
a0001c0001t0040g0288
a0001c0003t0012g0177
 5 HG02622.hp2
HG02738.hp2
HG03225.hp2
others(2): Show 
HG02622.hp2
HG02738.hp2
HG03225.hp2
HG03654.hp1
NA21309.hp1
 intron_variant MODIFIER c.1213+8804G>A
c.1213+8804G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78830552
chr5:78830553 G
G
 A
A
 1 a0001c0001t0007g0250
a0001c0001t0007g0250
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.1213+8803C>T
c.1213+8803C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78830553
chr5:78830648 C
C
 T
T
 4 a0001c0003t0002g0262
a0001c0009t0016g0271
a0001c0009t0016g0272
others(1): Show 
a0001c0003t0002g0262
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0019t0022g0233
 4 HG01891.hp2
HG02451.hp2
HG03130.hp1
others(1): Show 
HG01891.hp2
HG02451.hp2
HG03130.hp1
NA19240.hp1
 intron_variant MODIFIER c.1213+8708G>A
c.1213+8708G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78830648
chr5:78830705 G
G
 A
A
 2 a0003c0004t0001g0154
a0003c0004t0007g0331
a0003c0004t0001g0154
a0003c0004t0007g0331
 2 HG02602.hp1
HG03927.hp2
HG02602.hp1
HG03927.hp2
 intron_variant MODIFIER c.1213+8651C>T
c.1213+8651C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78830705
chr5:78830738 C
C
 A
A
 53 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
others(50): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0049g0139
 53 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(50): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01517.hp1
HG01978.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02523.hp1
HG02698.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19043.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+8618G>T
c.1213+8618G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78830738
chr5:78831026 A
A
 G
G
 1 a0002c0002t0014g0106
a0002c0002t0014g0106
 1 NA18978.hp1
NA18978.hp1
 intron_variant MODIFIER c.1213+8330T>C
c.1213+8330T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78831026
chr5:78831027 C
C
 T
T
 151 a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0003g0214
others(148): Show 
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0004g0009
a0001c0001t0004g0328
a0001c0001t0004g0337
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0008g0279
a0001c0001t0018g0130
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0018g0057
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0006g0191
a0002c0002t0006g0211
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0055g0094
a0002c0002t0066g0355
a0002c0010t0003g0161
a0002c0010t0003g0322
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0007c0012t0032g0180
 152 HG00099.hp2
HG00280.hp2
HG00323.hp2
others(149): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04204.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18946.hp1
NA18947.hp1
NA18949.hp1
NA18951.hp1
NA18954.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp1
NA18968.hp1
NA18968.hp2
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp1
NA18992.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19010.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19062.hp2
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19240.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.1213+8329G>A
c.1213+8329G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78831027
chr5:78831335 C
C
 T
T
 1 a0001c0001t0010g0244
a0001c0001t0010g0244
 1 HG03654.hp2
HG03654.hp2
 intron_variant MODIFIER c.1213+8021G>A
c.1213+8021G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78831335
chr5:78831425 A
A
 C
C
 8 a0001c0001t0001g0236
a0001c0001t0002g0104
a0001c0001t0003g0021
others(5): Show 
a0001c0001t0001g0236
a0001c0001t0002g0104
a0001c0001t0003g0021
a0001c0001t0008g0223
a0001c0001t0008g0297
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0065g0017
 8 HG00280.hp1
NA18944.hp2
NA18959.hp1
others(5): Show 
HG00280.hp1
NA18944.hp2
NA18959.hp1
NA18972.hp1
NA18983.hp2
NA19010.hp2
NA19066.hp1
NA19066.hp2
 intron_variant MODIFIER c.1213+7931T>G
c.1213+7931T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78831425
chr5:78831426 G
G
 C
C
 8 a0001c0001t0001g0236
a0001c0001t0002g0104
a0001c0001t0003g0021
others(5): Show 
a0001c0001t0001g0236
a0001c0001t0002g0104
a0001c0001t0003g0021
a0001c0001t0008g0223
a0001c0001t0008g0297
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0065g0017
 8 HG00280.hp1
NA18944.hp2
NA18959.hp1
others(5): Show 
HG00280.hp1
NA18944.hp2
NA18959.hp1
NA18972.hp1
NA18983.hp2
NA19010.hp2
NA19066.hp1
NA19066.hp2
 intron_variant MODIFIER c.1213+7930C>G
c.1213+7930C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78831426
chr5:78831494 A
A
 C
C
 1 a0001c0001t0034g0072
a0001c0001t0034g0072
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1213+7862T>G
c.1213+7862T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78831494
chr5:78831790 G
G
 T
T
 1 a0001c0003t0002g0262
a0001c0003t0002g0262
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.1213+7566C>A
c.1213+7566C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78831790
chr5:78831869 C
C
 T
T
 1 a0001c0003t0002g0262
a0001c0003t0002g0262
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.1213+7487G>A
c.1213+7487G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78831869
chr5:78831989 G
G
 A
A
 265 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(262): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0004g0328
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0008g0279
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0018g0130
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 266 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(263): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18993.hp2
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19062.hp2
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+7367C>T
c.1213+7367C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78831989
chr5:78832229 C
C
 T
T
 3 a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
 3 HG02055.hp1
NA18906.hp2
NA19240.hp2
HG02055.hp1
NA18906.hp2
NA19240.hp2
 intron_variant MODIFIER c.1213+7127G>A
c.1213+7127G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78832229
chr5:78832282 T
T
 C
C
 264 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(261): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0004g0328
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0008g0279
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0018g0130
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 265 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(262): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18942.hp1
NA18944.hp1
NA18946.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19062.hp2
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+7074A>G
c.1213+7074A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78832282
chr5:78832294 G
G
 A
A
 5 a0001c0001t0007g0115
a0001c0001t0018g0130
a0001c0001t0031g0324
others(2): Show 
a0001c0001t0007g0115
a0001c0001t0018g0130
a0001c0001t0031g0324
a0001c0007t0004g0100
a0001c0007t0068g0111
 5 HG02809.hp1
HG02976.hp2
HG03041.hp2
others(2): Show 
HG02809.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03540.hp2
 intron_variant MODIFIER c.1213+7062C>T
c.1213+7062C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78832294
chr5:78832332 C
C
 T
T
 4 a0001c0001t0018g0130
a0001c0001t0031g0324
a0001c0007t0004g0100
others(1): Show 
a0001c0001t0018g0130
a0001c0001t0031g0324
a0001c0007t0004g0100
a0001c0007t0068g0111
 4 HG02976.hp2
HG03041.hp2
HG03130.hp2
others(1): Show 
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03540.hp2
 intron_variant MODIFIER c.1213+7024G>A
c.1213+7024G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78832332
chr5:78832335 C
C
 T
T
 1 a0001c0001t0002g0277
a0001c0001t0002g0277
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.1213+7021G>A
c.1213+7021G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78832335
chr5:78832410 C
C
 A
A
 57 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(54): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0270
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0074g0073
a0001c0005t0075g0112
a0003c0004t0014g0164
a0006c0020t0003g0127
 57 HG00438.hp2
HG00558.hp1
HG01109.hp2
others(54): Show 
HG00438.hp2
HG00558.hp1
HG01109.hp2
HG01243.hp2
HG01261.hp2
HG01884.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01993.hp2
HG02055.hp1
HG02109.hp1
HG02135.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02976.hp1
HG03195.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03579.hp1
HG03654.hp2
HG04115.hp2
HG04199.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp1
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18963.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19077.hp2
NA19088.hp2
NA19240.hp2
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.1213+6946G>T
c.1213+6946G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78832410
chr5:78832459 C
C
 T
T
 57 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
others(54): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0002g0128
 57 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(54): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01361.hp1
HG01517.hp1
HG01978.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02523.hp1
HG02698.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+6897G>A
c.1213+6897G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78832459
chr5:78832601 C
C
 T
T
 20 a0001c0001t0006g0356
a0001c0001t0008g0279
a0001c0003t0006g0156
others(17): Show 
a0001c0001t0006g0356
a0001c0001t0008g0279
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0041g0155
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
a0003c0014t0015g0202
 20 HG00323.hp2
HG01515.hp2
HG01891.hp1
others(17): Show 
HG00323.hp2
HG01515.hp2
HG01891.hp1
HG02040.hp2
HG02145.hp1
HG02280.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02735.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG04115.hp1
 intron_variant MODIFIER c.1213+6755G>A
c.1213+6755G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78832601
chr5:78832639 A
A
 C
C
 1 a0001c0001t0003g0063
a0001c0001t0003g0063
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.1213+6717T>G
c.1213+6717T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78832639
chr5:78832752 A
A
 C
C
 198 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(195): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0277
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0004g0328
a0001c0001t0004g0337
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0006g0356
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0008g0279
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0006g0191
a0002c0002t0006g0211
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0055g0094
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 199 HG00099.hp2
HG00280.hp2
HG00323.hp2
others(196): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18942.hp1
NA18946.hp1
NA18947.hp1
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19062.hp2
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19077.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1213+6604T>G
c.1213+6604T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78832752
chr5:78832769 C
C
 T
T
 114 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(111): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0004g0328
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0021t0003g0358
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0006c0020t0003g0127
a0007c0012t0032g0180
 115 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(112): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01358.hp2
HG01433.hp2
HG01884.hp1
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp2
HG02572.hp2
HG02602.hp1
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02723.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03195.hp1
HG03195.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03927.hp2
HG04115.hp2
HG04199.hp2
HG04204.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp1
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19000.hp2
NA19010.hp1
NA19043.hp1
NA19063.hp1
NA19077.hp2
NA19085.hp1
NA19088.hp2
NA19240.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1213+6587G>A
c.1213+6587G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78832769
chr5:78832774 T
T
 C
C
 1 a0001c0001t0001g0305
a0001c0001t0001g0305
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.1213+6582A>G
c.1213+6582A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78832774
chr5:78832868 G
G
 C
C
 3 a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0019t0022g0233
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0019t0022g0233
 3 HG01891.hp2
HG03130.hp1
NA19240.hp1
HG01891.hp2
HG03130.hp1
NA19240.hp1
 intron_variant MODIFIER c.1213+6488C>G
c.1213+6488C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78832868
chr5:78832979 C
C
 T
T
 58 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
others(55): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0002g0128
 58 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(55): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01361.hp1
HG01517.hp1
HG01978.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02523.hp1
HG02698.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+6377G>A
c.1213+6377G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78832979
chr5:78833054 A
A
 T
T
 62 a0001c0001t0002g0039
a0001c0001t0002g0277
a0001c0001t0002g0317
others(59): Show 
a0001c0001t0002g0039
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0013g0329
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0019t0022g0233
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0002g0128
 62 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(59): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01361.hp1
HG01517.hp1
HG01891.hp2
HG01978.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02523.hp1
HG02698.hp1
HG03130.hp1
HG03453.hp2
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA19240.hp1
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+6302T>A
c.1213+6302T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78833054
chr5:78833229 C
C
 T
T
 58 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
others(55): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0002g0128
 58 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(55): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01361.hp1
HG01517.hp1
HG01978.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02523.hp1
HG02698.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+6127G>A
c.1213+6127G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78833229
chr5:78833298 A
A
 G
G
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01106.hp2
HG01106.hp2
 intron_variant MODIFIER c.1213+6058T>C
c.1213+6058T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78833298
chr5:78833340 C
C
 CAGATCAG
others(10): Show 
CAGATCAGCCTACTAGAA
 191 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(188): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0004g0328
a0001c0001t0004g0337
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0006g0356
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0006g0191
a0002c0002t0006g0211
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0055g0094
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 192 HG00099.hp2
HG00280.hp2
HG00323.hp2
others(189): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18942.hp1
NA18946.hp1
NA18947.hp1
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19062.hp2
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19077.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1213+6015_1213+601
others(21): Show 
c.1213+6015_1213+6016insTTCTAGTAGGCTGATCT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78833340
chr5:78833537 G
G
 A
A
 1 a0002c0002t0006g0204
a0002c0002t0006g0204
 1 HG01517.hp1
HG01517.hp1
 intron_variant MODIFIER c.1213+5819C>T
c.1213+5819C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78833537
chr5:78833558 T
T
 G
G
 252 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(249): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0004g0328
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0006g0356
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 253 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(250): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19062.hp2
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+5798A>C
c.1213+5798A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78833558
chr5:78833614 G
G
 A
A
 1 a0001c0001t0002g0005
a0001c0001t0002g0005
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.1213+5742C>T
c.1213+5742C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78833614
chr5:78833786 A
A
 C
C
 56 a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0003t0001g0047
others(53): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0021t0003g0358
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0007c0012t0032g0180
 57 HG00099.hp2
HG00280.hp2
HG00544.hp2
others(54): Show 
HG00099.hp2
HG00280.hp2
HG00544.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG01981.hp1
HG02056.hp2
HG02071.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02572.hp2
HG02602.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02738.hp1
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03195.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
HG04204.hp2
NA18947.hp1
NA18960.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19043.hp1
NA19063.hp1
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1213+5570T>G
c.1213+5570T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78833786
chr5:78833827 C
C
 G
G
 3 a0002c0002t0003g0137
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0003g0137
a0002c0002t0009g0136
a0002c0002t0009g0138
 3 NA18979.hp1
NA19084.hp1
NA19085.hp2
NA18979.hp1
NA19084.hp1
NA19085.hp2
 intron_variant MODIFIER c.1213+5529G>C
c.1213+5529G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78833827
chr5:78833985 A
A
 G
G
 58 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
others(55): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0002g0128
 58 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(55): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01361.hp1
HG01517.hp1
HG01978.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02523.hp1
HG02698.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+5371T>C
c.1213+5371T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78833985
chr5:78834115 C
C
 T
T
 59 a0001c0001t0002g0039
a0001c0001t0002g0277
a0001c0001t0002g0317
others(56): Show 
a0001c0001t0002g0039
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0002g0128
 59 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(56): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01361.hp1
HG01517.hp1
HG01978.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02523.hp1
HG02698.hp1
HG03453.hp2
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+5241G>A
c.1213+5241G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834115
chr5:78834136 G
G
 A
A
 1 a0002c0010t0003g0161
a0002c0010t0003g0161
 1 HG01517.hp2
HG01517.hp2
 intron_variant MODIFIER c.1213+5220C>T
c.1213+5220C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834136
chr5:78834228 C
C
 T
T
 100 a0001c0001t0004g0337
a0001c0001t0006g0356
a0001c0003t0002g0074
others(97): Show 
a0001c0001t0004g0337
a0001c0001t0006g0356
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0022t0006g0359
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0006g0191
a0002c0002t0006g0211
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0055g0094
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0014t0015g0202
a0005c0016t0002g0237
 100 HG00323.hp2
HG00408.hp1
HG00544.hp1
others(97): Show 
HG00323.hp2
HG00408.hp1
HG00544.hp1
HG00558.hp2
HG01109.hp2
HG01243.hp2
HG01346.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01975.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02293.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18954.hp1
NA18961.hp2
NA18968.hp1
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19043.hp2
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA21309.hp2
 intron_variant MODIFIER c.1213+5128G>A
c.1213+5128G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834228
chr5:78834292 C
C
 T
T
 59 a0001c0001t0002g0039
a0001c0001t0002g0277
a0001c0001t0002g0317
others(56): Show 
a0001c0001t0002g0039
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0002g0128
 59 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(56): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01361.hp1
HG01517.hp1
HG01978.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02523.hp1
HG02698.hp1
HG03453.hp2
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+5064G>A
c.1213+5064G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834292
chr5:78834299 C
C
 T
T
 59 a0001c0001t0002g0039
a0001c0001t0002g0277
a0001c0001t0002g0317
others(56): Show 
a0001c0001t0002g0039
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0002g0128
 59 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(56): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01361.hp1
HG01517.hp1
HG01978.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02523.hp1
HG02698.hp1
HG03453.hp2
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+5057G>A
c.1213+5057G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834299
chr5:78834321 G
G
 A
A
 1 a0001c0003t0002g0078
a0001c0003t0002g0078
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.1213+5035C>T
c.1213+5035C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834321
chr5:78834424 C
C
 T
T
 1 a0002c0013t0017g0015
a0002c0013t0017g0015
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.1213+4932G>A
c.1213+4932G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834424
chr5:78834462 T
T
 C
C
 2 a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0256
a0001c0001t0003g0257
 2 NA18968.hp2
NA18994.hp1
NA18968.hp2
NA18994.hp1
 intron_variant MODIFIER c.1213+4894A>G
c.1213+4894A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834462
chr5:78834555 T
T
 C
C
 59 a0001c0001t0002g0039
a0001c0001t0002g0277
a0001c0001t0002g0317
others(56): Show 
a0001c0001t0002g0039
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0002g0128
 59 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(56): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01361.hp1
HG01517.hp1
HG01978.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02523.hp1
HG02698.hp1
HG03453.hp2
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+4801A>G
c.1213+4801A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834555
chr5:78834603 A
A
 ATG
ATG
 20 a0001c0001t0002g0317
a0001c0001t0007g0181
a0001c0001t0013g0329
others(17): Show 
a0001c0001t0002g0317
a0001c0001t0007g0181
a0001c0001t0013g0329
a0001c0003t0002g0253
a0001c0003t0016g0258
a0002c0002t0001g0183
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0003g0025
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0013g0216
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0023g0162
a0002c0002t0042g0224
a0002c0002t0057g0284
a0002c0002t0066g0355
a0003c0014t0015g0202
 20 HG00423.hp2
HG00741.hp2
HG01070.hp2
others(17): Show 
HG00423.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01168.hp1
HG01175.hp2
HG02129.hp1
HG02647.hp2
HG02735.hp2
HG03195.hp1
HG03710.hp1
HG03942.hp1
NA18943.hp1
NA18953.hp2
NA18963.hp2
NA18979.hp2
NA18984.hp2
NA18993.hp2
NA18995.hp2
NA20805.hp1
 intron_variant MODIFIER c.1213+4751_1213+475
others(6): Show 
c.1213+4751_1213+4752dupCA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834603
chr5:78834603 A
A
 ATGTG
ATGTG
 15 a0001c0003t0002g0078
a0002c0002t0001g0054
a0002c0002t0001g0069
others(12): Show 
a0001c0003t0002g0078
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0002g0186
a0002c0002t0003g0068
a0002c0002t0005g0042
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0019g0303
a0002c0002t0030g0304
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0002g0128
 15 HG00609.hp2
HG00642.hp2
HG00733.hp2
others(12): Show 
HG00609.hp2
HG00642.hp2
HG00733.hp2
HG01106.hp1
HG01257.hp1
HG01361.hp1
HG01517.hp1
HG02109.hp2
HG02723.hp2
NA18949.hp2
NA18970.hp1
NA19002.hp2
NA19068.hp2
NA19084.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+4749_1213+475
others(8): Show 
c.1213+4749_1213+4752dupCACA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834603
chr5:78834607 G
G
 GTA
GTA
 39 a0001c0001t0001g0023
a0001c0001t0001g0035
a0001c0001t0001g0062
others(36): Show 
a0001c0001t0001g0023
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0003g0021
a0001c0001t0003g0214
a0001c0001t0004g0278
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0279
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0011g0046
a0001c0001t0019g0249
a0001c0001t0021g0173
a0001c0001t0037g0059
a0001c0003t0002g0160
a0001c0003t0002g0276
a0001c0003t0002g0342
a0001c0003t0009g0281
a0001c0003t0012g0350
a0001c0003t0015g0346
a0001c0003t0027g0114
a0001c0003t0058g0045
a0001c0005t0032g0117
a0001c0019t0022g0233
a0001c0022t0006g0359
a0002c0002t0003g0336
a0002c0002t0015g0296
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0052g0098
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0011g0007
a0003c0004t0012g0123
a0004c0006t0024g0175
a0007c0012t0032g0180
 39 HG00099.hp2
HG00408.hp1
HG00673.hp2
others(36): Show 
HG00099.hp2
HG00408.hp1
HG00673.hp2
HG01074.hp1
HG01175.hp1
HG01258.hp1
HG01433.hp2
HG01952.hp2
HG01981.hp1
HG02040.hp2
HG02080.hp2
HG02280.hp1
HG02280.hp2
HG02559.hp1
HG02572.hp2
HG02622.hp2
HG02647.hp1
HG02698.hp2
HG02965.hp1
HG03130.hp1
HG03225.hp1
HG03491.hp1
HG03927.hp1
HG04204.hp1
NA18941.hp1
NA18943.hp2
NA18947.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18968.hp1
NA18972.hp1
NA19004.hp2
NA19009.hp2
NA19011.hp2
NA19043.hp2
NA19057.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.1213+4747_1213+474
others(6): Show 
c.1213+4747_1213+4748dupTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834607
chr5:78834607 G
G
 GTATA
GTATA
 46 a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0084
others(43): Show 
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0321
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0004g0083
a0001c0001t0008g0286
a0001c0001t0010g0141
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0174
a0001c0001t0065g0017
a0001c0003t0001g0344
a0001c0003t0006g0103
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0025g0341
a0001c0015t0027g0102
a0001c0018t0002g0016
a0002c0002t0001g0310
a0002c0002t0009g0194
a0003c0004t0001g0153
a0003c0004t0004g0150
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0049g0139
a0004c0006t0004g0188
a0004c0006t0016g0163
a0004c0006t0016g0221
 46 HG00280.hp2
HG00323.hp1
HG00738.hp2
others(43): Show 
HG00280.hp2
HG00323.hp1
HG00738.hp2
HG01070.hp1
HG01106.hp2
HG01167.hp2
HG01192.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01884.hp2
HG01952.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02293.hp2
HG02523.hp2
HG02735.hp1
HG02738.hp2
HG02922.hp2
HG03139.hp2
HG03453.hp1
HG03710.hp2
HG04184.hp2
HG04204.hp2
NA18946.hp2
NA18948.hp2
NA18952.hp2
NA18959.hp1
NA18961.hp1
NA18968.hp2
NA18972.hp2
NA18978.hp2
NA18983.hp2
NA18992.hp2
NA18994.hp1
NA19001.hp2
NA19009.hp1
NA19043.hp1
NA19062.hp1
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19088.hp1
 intron_variant MODIFIER c.1213+4745_1213+474
others(8): Show 
c.1213+4745_1213+4748dupTATA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834607
chr5:78834607 G
G
 GTATATA
GTATATA
 19 a0001c0001t0001g0031
a0001c0001t0002g0201
a0001c0001t0003g0140
others(16): Show 
a0001c0001t0001g0031
a0001c0001t0002g0201
a0001c0001t0003g0140
a0001c0001t0003g0190
a0001c0001t0004g0328
a0001c0001t0008g0223
a0001c0001t0011g0026
a0001c0001t0011g0242
a0001c0001t0020g0290
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0039g0291
a0001c0003t0006g0212
a0001c0003t0010g0157
a0002c0002t0009g0080
a0003c0004t0001g0154
a0003c0004t0004g0149
a0003c0004t0007g0331
a0003c0004t0062g0133
 19 HG00140.hp1
HG01361.hp2
HG01515.hp2
others(16): Show 
HG00140.hp1
HG01361.hp2
HG01515.hp2
HG02129.hp2
HG02602.hp1
HG02683.hp1
HG03017.hp1
HG03669.hp1
HG03927.hp2
HG04115.hp1
NA18959.hp2
NA18983.hp1
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA19010.hp2
NA19065.hp2
NA19074.hp2
NA19077.hp2
 intron_variant MODIFIER c.1213+4743_1213+474
others(10): Show 
c.1213+4743_1213+4748dupTATATA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834607
chr5:78834607 G
G
 GTATATAT
others(1): Show 
GTATATATA
 8 a0001c0001t0001g0144
a0001c0001t0001g0236
a0001c0001t0004g0330
others(5): Show 
a0001c0001t0001g0144
a0001c0001t0001g0236
a0001c0001t0004g0330
a0001c0001t0034g0072
a0001c0003t0012g0089
a0001c0009t0016g0271
a0001c0009t0016g0272
a0004c0006t0004g0215
 8 HG01496.hp2
HG01891.hp2
HG02071.hp2
others(5): Show 
HG01496.hp2
HG01891.hp2
HG02071.hp2
HG02258.hp2
HG02818.hp1
NA18942.hp2
NA18944.hp2
NA19240.hp1
 intron_variant MODIFIER c.1213+4741_1213+474
others(12): Show 
c.1213+4741_1213+4748dupTATATATA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834607
chr5:78834607 G
G
 GTATATAT
others(3): Show 
GTATATATATA
 2 a0001c0001t0008g0297
a0002c0002t0026g0086
a0001c0001t0008g0297
a0002c0002t0026g0086
 2 HG00280.hp1
HG03834.hp1
HG00280.hp1
HG03834.hp1
 intron_variant MODIFIER c.1213+4739_1213+474
others(14): Show 
c.1213+4739_1213+4748dupTATATATATA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834607
chr5:78834607 G
G
 GTATATAT
others(5): Show 
GTATATATATATA
 1 a0003c0004t0007g0152
a0003c0004t0007g0152
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1213+4737_1213+474
others(16): Show 
c.1213+4737_1213+4748dupTATATATATATA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834607
chr5:78834607 G
G
 GTATATAT
others(11): Show 
GTATATATATATATATATA
 1 a0001c0001t0040g0288
a0001c0001t0040g0288
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.1213+4731_1213+474
others(22): Show 
c.1213+4731_1213+4748dupTATATATATATATATATA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834607
chr5:78834607 G
G
 GTGTA
GTGTA
 3 a0001c0003t0002g0270
a0001c0005t0017g0255
a0001c0005t0075g0112
a0001c0003t0002g0270
a0001c0005t0017g0255
a0001c0005t0075g0112
 3 HG01243.hp2
HG02622.hp1
HG02976.hp1
HG01243.hp2
HG02622.hp1
HG02976.hp1
 intron_variant MODIFIER c.1213+4748_1213+474
others(8): Show 
c.1213+4748_1213+4749insTACA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834607
chr5:78834607 G
G
 GTGTATA
GTGTATA
 9 a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0006g0254
others(6): Show 
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0006g0254
a0001c0003t0012g0232
a0001c0003t0028g0051
a0001c0003t0041g0155
a0001c0003t0056g0022
a0001c0003t0061g0252
a0001c0005t0017g0353
 9 HG00323.hp2
HG01884.hp1
HG02109.hp1
others(6): Show 
HG00323.hp2
HG01884.hp1
HG02109.hp1
HG02895.hp1
HG03471.hp1
NA18906.hp1
NA20300.hp1
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1213+4748_1213+474
others(10): Show 
c.1213+4748_1213+4749insTATACA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834607
chr5:78834607 G
G
 GTGTATAT
others(1): Show 
GTGTATATA
 7 a0001c0003t0012g0166
a0001c0003t0018g0260
a0001c0003t0048g0266
others(4): Show 
a0001c0003t0012g0166
a0001c0003t0018g0260
a0001c0003t0048g0266
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0074g0073
 7 HG01109.hp2
HG02055.hp1
HG02818.hp2
others(4): Show 
HG01109.hp2
HG02055.hp1
HG02818.hp2
HG03486.hp2
HG03579.hp1
NA18906.hp2
NA19240.hp2
 intron_variant MODIFIER c.1213+4748_1213+474
others(12): Show 
c.1213+4748_1213+4749insTATATACA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834607
chr5:78834607 G
G
 GTGTATAT
others(3): Show 
GTGTATATATA
 1 a0001c0003t0022g0178
a0001c0003t0022g0178
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.1213+4748_1213+474
others(14): Show 
c.1213+4748_1213+4749insTATATATACA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834607
chr5:78834607 G
G
 GTGTATAT
others(5): Show 
GTGTATATATATA
 1 a0001c0003t0002g0101
a0001c0003t0002g0101
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.1213+4748_1213+474
others(16): Show 
c.1213+4748_1213+4749insTATATATATACA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834607
chr5:78834607 G
G
 GTGTGTA
GTGTGTA
 9 a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0004g0096
others(6): Show 
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0318
a0002c0002t0006g0126
a0002c0002t0011g0234
a0002c0002t0013g0240
a0002c0002t0030g0037
 9 HG00621.hp1
NA18612.hp1
NA18951.hp2
others(6): Show 
HG00621.hp1
NA18612.hp1
NA18951.hp2
NA18989.hp2
NA19000.hp1
NA19001.hp1
NA19004.hp1
NA19057.hp2
NA20129.hp1
 intron_variant MODIFIER c.1213+4748_1213+474
others(10): Show 
c.1213+4748_1213+4749insTACACA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834607
chr5:78834607 G
G
 GTGTGTAT
others(1): Show 
GTGTGTATA
 7 a0001c0001t0002g0039
a0001c0001t0005g0038
a0002c0002t0001g0287
others(4): Show 
a0001c0001t0002g0039
a0001c0001t0005g0038
a0002c0002t0001g0287
a0002c0002t0003g0319
a0002c0002t0005g0340
a0002c0002t0019g0248
a0002c0002t0063g0198
 7 HG00423.hp1
HG00673.hp1
HG01109.hp1
others(4): Show 
HG00423.hp1
HG00673.hp1
HG01109.hp1
HG02523.hp1
NA18948.hp1
NA18969.hp1
NA18975.hp1
 intron_variant MODIFIER c.1213+4748_1213+474
others(12): Show 
c.1213+4748_1213+4749insTATACACA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834607
chr5:78834607 G
G
 GTGTGTAT
others(3): Show 
GTGTGTATATA
 1 a0002c0002t0006g0206
a0002c0002t0006g0206
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.1213+4748_1213+474
others(14): Show 
c.1213+4748_1213+4749insTATATACACA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834607
chr5:78834607 G
G
 GTGTGTAT
others(5): Show 
GTGTGTATATATA
 3 a0001c0001t0002g0277
a0002c0002t0009g0121
a0002c0002t0011g0230
a0001c0001t0002g0277
a0002c0002t0009g0121
a0002c0002t0011g0230
 3 HG02132.hp2
HG03453.hp2
NA19003.hp2
HG02132.hp2
HG03453.hp2
NA19003.hp2
 intron_variant MODIFIER c.1213+4748_1213+474
others(16): Show 
c.1213+4748_1213+4749insTATATATACACA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834607
chr5:78834607 GTA
GTA
 G
G
 53 a0001c0001t0001g0263
a0001c0001t0001g0305
a0001c0001t0001g0315
others(50): Show 
a0001c0001t0001g0263
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0002g0005
a0001c0001t0003g0167
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0058
a0001c0001t0004g0337
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0006g0356
a0001c0001t0008g0040
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0013g0227
a0001c0001t0014g0189
a0001c0001t0021g0347
a0001c0001t0051g0239
a0001c0003t0002g0269
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0006g0267
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0018g0057
a0001c0003t0031g0119
a0001c0003t0070g0251
a0001c0007t0077g0070
a0001c0008t0002g0120
a0002c0002t0001g0299
a0002c0002t0001g0345
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0005g0241
a0002c0002t0008g0311
a0002c0002t0009g0136
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0025g0213
a0002c0002t0055g0094
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0033g0282
a0003c0004t0054g0142
a0006c0020t0003g0127
 54 HG00609.hp1
HG00621.hp2
HG00642.hp1
others(51): Show 
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00733.hp1
HG00738.hp1
HG01069.hp2
HG01071.hp2
HG01167.hp1
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01515.hp1
HG01517.hp2
HG02027.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02258.hp1
HG02293.hp1
HG02683.hp2
HG02717.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03209.hp1
HG03225.hp2
HG03486.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp2
HG03669.hp2
HG03834.hp2
HG04184.hp1
HG04199.hp1
NA18612.hp2
NA18942.hp1
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18954.hp1
NA18963.hp1
NA18969.hp2
NA18975.hp2
NA18978.hp1
NA18985.hp2
NA18986.hp2
NA18994.hp2
NA19062.hp2
NA19065.hp1
NA19084.hp1
NA19085.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1213+4747_1213+474
others(6): Show 
c.1213+4747_1213+4748delTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834607
chr5:78834607 GTATA
GTATA
 G
G
 27 a0001c0001t0001g0135
a0001c0001t0001g0335
a0001c0001t0002g0218
others(24): Show 
a0001c0001t0001g0135
a0001c0001t0001g0335
a0001c0001t0002g0218
a0001c0001t0003g0019
a0001c0001t0003g0034
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0008g0131
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0011g0033
a0001c0001t0059g0332
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0034g0071
a0001c0003t0069g0273
a0001c0005t0076g0268
a0001c0007t0036g0259
a0002c0002t0001g0231
a0002c0002t0003g0129
a0002c0002t0005g0192
a0002c0002t0006g0014
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0012g0228
a0003c0004t0014g0164
 27 HG00438.hp2
HG00558.hp1
HG00558.hp2
others(24): Show 
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG01993.hp2
HG02074.hp1
HG02451.hp1
HG02572.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG03139.hp1
HG03579.hp2
HG03654.hp2
HG03942.hp2
NA18747.hp1
NA18952.hp1
NA18954.hp2
NA18957.hp2
NA18992.hp1
NA19068.hp1
NA19088.hp2
NA20300.hp2
 intron_variant MODIFIER c.1213+4745_1213+474
others(8): Show 
c.1213+4745_1213+4748delTATA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834607
chr5:78834607 GTATATA
GTATATA
 G
G
 4 a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0007g0333
others(1): Show 
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0007g0333
a0002c0002t0006g0191
 4 HG00408.hp2
HG01346.hp1
HG01943.hp2
others(1): Show 
HG00408.hp2
HG01346.hp1
HG01943.hp2
HG01975.hp2
 intron_variant MODIFIER c.1213+4743_1213+474
others(10): Show 
c.1213+4743_1213+4748delTATATA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834607
chr5:78834607 GTATATAT
others(3): Show 
GTATATATATA
 G
G
 1 a0002c0002t0045g0302
a0002c0002t0045g0302
 1 NA18946.hp1
NA18946.hp1
 intron_variant MODIFIER c.1213+4739_1213+474
others(14): Show 
c.1213+4739_1213+4748delTATATATATA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834607
chr5:78834607 GTATATAT
others(5): Show 
GTATATATATATA
 G
G
 2 a0001c0001t0008g0065
a0001c0005t0035g0165
a0001c0001t0008g0065
a0001c0005t0035g0165
 2 HG01433.hp1
HG02559.hp2
HG01433.hp1
HG02559.hp2
 intron_variant MODIFIER c.1213+4737_1213+474
others(16): Show 
c.1213+4737_1213+4748delTATATATATATA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834607
chr5:78834607 GTATATAT
others(7): Show 
GTATATATATATATA
 G
G
 1 a0001c0001t0014g0199
a0001c0001t0014g0199
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.1213+4735_1213+474
others(18): Show 
c.1213+4735_1213+4748delTATATATATATATA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834607
chr5:78834607 GTATATAT
others(9): Show 
GTATATATATATATATA
 G
G
 1 a0002c0002t0003g0306
a0002c0002t0003g0306
 1 NA18941.hp2
NA18941.hp2
 intron_variant MODIFIER c.1213+4733_1213+474
others(20): Show 
c.1213+4733_1213+4748delTATATATATATATATA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834607
chr5:78834607 GTATATAT
others(13): Show 
GTATATATATATATATATATA
 G
G
 3 a0001c0003t0001g0326
a0001c0003t0002g0262
a0001c0008t0008g0118
a0001c0003t0001g0326
a0001c0003t0002g0262
a0001c0008t0008g0118
 3 HG02451.hp2
HG02615.hp1
HG03490.hp1
HG02451.hp2
HG02615.hp1
HG03490.hp1
 intron_variant MODIFIER c.1213+4729_1213+474
others(24): Show 
c.1213+4729_1213+4748delTATATATATATATATATATA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834607
chr5:78834607 GTATATAT
others(15): Show 
GTATATATATATATATATATATA
 G
G
 12 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(9): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0014g0220
a0001c0003t0022g0229
a0001c0003t0060g0210
a0001c0021t0003g0358
 12 HG00544.hp2
HG02056.hp2
HG02071.hp1
others(9): Show 
HG00544.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02738.hp1
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
 intron_variant MODIFIER c.1213+4727_1213+474
others(26): Show 
c.1213+4727_1213+4748delTATATATATATATATATATATA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834607
chr5:78834607 GTATATAT
others(21): Show 
GTATATATATATATATATATATATATATA
 G
G
 14 a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0006g0219
others(11): Show 
a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0018g0130
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0007t0004g0100
a0001c0007t0068g0111
a0003c0004t0003g0095
a0003c0004t0029g0108
a0003c0004t0029g0109
 14 HG00741.hp1
HG01243.hp1
HG02717.hp1
others(11): Show 
HG00741.hp1
HG01243.hp1
HG02717.hp1
HG02809.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03209.hp2
HG03490.hp2
HG03492.hp1
HG03540.hp2
NA19030.hp1
 intron_variant MODIFIER c.1213+4721_1213+474
others(32): Show 
c.1213+4721_1213+4748delTATATATATATATATATATATATATA
TA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834607
chr5:78834609 A
A
 G
G
 27 a0001c0001t0002g0317
a0001c0001t0013g0329
a0001c0003t0007g0011
others(24): Show 
a0001c0001t0002g0317
a0001c0001t0013g0329
a0001c0003t0007g0011
a0001c0003t0007g0012
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0005g0325
a0002c0002t0009g0067
a0002c0002t0013g0216
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0057g0284
a0002c0002t0064g0285
a0002c0002t0066g0355
 27 HG00099.hp1
HG00140.hp2
HG00423.hp2
others(24): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp2
HG00438.hp1
HG00642.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01978.hp2
HG02129.hp1
HG02698.hp1
HG02896.hp2
HG02897.hp2
HG03710.hp1
NA18943.hp1
NA18944.hp1
NA18953.hp2
NA18963.hp2
NA18979.hp2
NA18984.hp2
NA18993.hp2
NA18995.hp2
NA20805.hp1
 intron_variant MODIFIER c.1213+4747T>C
c.1213+4747T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834609
chr5:78834611 A
A
 G
G
 8 a0002c0002t0001g0158
a0002c0002t0001g0184
a0002c0002t0001g0185
others(5): Show 
a0002c0002t0001g0158
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0005g0325
a0002c0002t0009g0067
a0002c0002t0026g0176
a0002c0002t0033g0217
a0002c0002t0064g0285
 8 HG00099.hp1
HG00140.hp2
HG00438.hp1
others(5): Show 
HG00099.hp1
HG00140.hp2
HG00438.hp1
HG01192.hp2
HG01255.hp1
HG01978.hp2
HG02698.hp1
NA18944.hp1
 intron_variant MODIFIER c.1213+4745T>C
c.1213+4745T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834611
chr5:78834625 A
A
 G
G
 1 a0002c0002t0003g0306
a0002c0002t0003g0306
 1 NA18941.hp2
NA18941.hp2
 intron_variant MODIFIER c.1213+4731T>C
c.1213+4731T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834625
chr5:78834627 A
A
 G
G
 1 a0002c0002t0003g0306
a0002c0002t0003g0306
 1 NA18941.hp2
NA18941.hp2
 intron_variant MODIFIER c.1213+4729T>C
c.1213+4729T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834627
chr5:78834633 A
A
 G
G
 1 a0001c0001t0002g0317
a0001c0001t0002g0317
 1 NA18979.hp2
NA18979.hp2
 intron_variant MODIFIER c.1213+4723T>C
c.1213+4723T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834633
chr5:78834713 T
T
 C
C
 1 a0001c0003t0009g0281
a0001c0003t0009g0281
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.1213+4643A>G
c.1213+4643A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834713
chr5:78834745 G
G
 A
A
 56 a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0003t0001g0047
others(53): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0021t0003g0358
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0007c0012t0032g0180
 57 HG00099.hp2
HG00280.hp2
HG00544.hp2
others(54): Show 
HG00099.hp2
HG00280.hp2
HG00544.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG01981.hp1
HG02056.hp2
HG02071.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02572.hp2
HG02602.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02738.hp1
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03195.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
HG04204.hp2
NA18947.hp1
NA18960.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19043.hp1
NA19063.hp1
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1213+4611C>T
c.1213+4611C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834745
chr5:78834756 T
T
 C
C
 73 a0001c0001t0002g0039
a0001c0001t0002g0277
a0001c0001t0002g0317
others(70): Show 
a0001c0001t0002g0039
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0006g0356
a0001c0001t0013g0329
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0002g0128
 73 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(70): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01361.hp1
HG01517.hp1
HG01891.hp1
HG01978.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02523.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02698.hp1
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+4600A>G
c.1213+4600A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834756
chr5:78834789 G
G
 C
C
 73 a0001c0001t0002g0039
a0001c0001t0002g0277
a0001c0001t0002g0317
others(70): Show 
a0001c0001t0002g0039
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0006g0356
a0001c0001t0013g0329
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0002g0128
 73 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(70): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01361.hp1
HG01517.hp1
HG01891.hp1
HG01978.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02523.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02698.hp1
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+4567C>G
c.1213+4567C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834789
chr5:78834793 T
T
 C
C
 58 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
others(55): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0002g0128
 58 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(55): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01361.hp1
HG01517.hp1
HG01978.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02523.hp1
HG02698.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+4563A>G
c.1213+4563A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834793
chr5:78834911 T
T
 C
C
 73 a0001c0001t0002g0039
a0001c0001t0002g0277
a0001c0001t0002g0317
others(70): Show 
a0001c0001t0002g0039
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0006g0356
a0001c0001t0013g0329
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0002g0128
 73 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(70): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01361.hp1
HG01517.hp1
HG01891.hp1
HG01978.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02523.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02698.hp1
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+4445A>G
c.1213+4445A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834911
chr5:78834953 C
C
 CCCCT
CCCCT
 48 a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0004g0337
others(45): Show 
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0004g0337
a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0001t0044g0091
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0006g0191
a0002c0002t0006g0211
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0055g0094
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
 48 HG00408.hp1
HG00544.hp1
HG00558.hp2
others(45): Show 
HG00408.hp1
HG00544.hp1
HG00558.hp2
HG00741.hp1
HG01243.hp1
HG01346.hp2
HG01515.hp1
HG01517.hp2
HG01975.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG02293.hp2
HG02683.hp2
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp2
HG04184.hp1
NA18612.hp2
NA18747.hp1
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18954.hp1
NA18961.hp2
NA18968.hp1
NA18968.hp2
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19030.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA20752.hp1
 intron_variant MODIFIER c.1213+4399_1213+440
others(8): Show 
c.1213+4399_1213+4402dupAGGG
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834953
chr5:78834953 CCCCT
CCCCT
 C
C
 73 a0001c0001t0002g0039
a0001c0001t0002g0277
a0001c0001t0002g0317
others(70): Show 
a0001c0001t0002g0039
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0006g0356
a0001c0001t0013g0329
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0002g0128
 73 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(70): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01361.hp1
HG01517.hp1
HG01891.hp1
HG01978.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02523.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02698.hp1
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+4399_1213+440
others(8): Show 
c.1213+4399_1213+4402delAGGG
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834953
chr5:78834953 CCCCTCCC
others(5): Show 
CCCCTCCCTCCCT
 C
C
 1 a0002c0002t0003g0336
a0002c0002t0003g0336
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.1213+4391_1213+440
others(16): Show 
c.1213+4391_1213+4402delAGGGAGGGAGGG
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78834953
chr5:78835049 C
C
 T
T
 73 a0001c0001t0002g0039
a0001c0001t0002g0277
a0001c0001t0002g0317
others(70): Show 
a0001c0001t0002g0039
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0006g0356
a0001c0001t0013g0329
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0002g0128
 73 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(70): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01361.hp1
HG01517.hp1
HG01891.hp1
HG01978.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02523.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02698.hp1
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+4307G>A
c.1213+4307G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78835049
chr5:78835146 A
A
 G
G
 73 a0001c0001t0002g0039
a0001c0001t0002g0277
a0001c0001t0002g0317
others(70): Show 
a0001c0001t0002g0039
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0006g0356
a0001c0001t0013g0329
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0002g0128
 73 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(70): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01361.hp1
HG01517.hp1
HG01891.hp1
HG01978.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02523.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02698.hp1
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+4210T>C
c.1213+4210T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78835146
chr5:78835504 G
G
 A
A
 1 a0003c0004t0049g0139
a0003c0004t0049g0139
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.1213+3852C>T
c.1213+3852C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78835504
chr5:78835513 C
C
 T
T
 101 a0001c0001t0002g0039
a0001c0001t0002g0277
a0001c0001t0002g0317
others(98): Show 
a0001c0001t0002g0039
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0006g0356
a0001c0001t0013g0329
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0007c0012t0032g0180
 102 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(99): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01517.hp1
HG01891.hp1
HG01952.hp2
HG01978.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02886.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp2
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18960.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19043.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+3843G>A
c.1213+3843G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78835513
chr5:78835647 C
C
 T
T
 1 a0002c0002t0012g0228
a0002c0002t0012g0228
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.1213+3709G>A
c.1213+3709G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78835647
chr5:78835724 C
C
 A
A
 217 a0001c0001t0002g0039
a0001c0001t0002g0277
a0001c0001t0002g0317
others(214): Show 
a0001c0001t0002g0039
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0006g0356
a0001c0001t0013g0329
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0007c0012t0032g0180
 218 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(215): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp2
NA18954.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp1
NA18963.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18984.hp2
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18989.hp2
NA18992.hp1
NA18993.hp2
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19062.hp2
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+3632G>T
c.1213+3632G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78835724
chr5:78835726 TTGCTCCT
others(5): Show 
TTGCTCCTTTGAG
 T
T
 8 a0001c0001t0001g0236
a0001c0001t0002g0104
a0001c0001t0003g0021
others(5): Show 
a0001c0001t0001g0236
a0001c0001t0002g0104
a0001c0001t0003g0021
a0001c0001t0008g0223
a0001c0001t0008g0297
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0065g0017
 8 HG00280.hp1
NA18944.hp2
NA18959.hp1
others(5): Show 
HG00280.hp1
NA18944.hp2
NA18959.hp1
NA18972.hp1
NA18983.hp2
NA19010.hp2
NA19066.hp1
NA19066.hp2
 intron_variant MODIFIER c.1213+3618_1213+362
others(16): Show 
c.1213+3618_1213+3629delCTCAAAGGAGCA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78835726
chr5:78835739 G
G
 C
C
 8 a0001c0001t0001g0236
a0001c0001t0002g0104
a0001c0001t0003g0021
others(5): Show 
a0001c0001t0001g0236
a0001c0001t0002g0104
a0001c0001t0003g0021
a0001c0001t0008g0223
a0001c0001t0008g0297
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0065g0017
 8 HG00280.hp1
NA18944.hp2
NA18959.hp1
others(5): Show 
HG00280.hp1
NA18944.hp2
NA18959.hp1
NA18972.hp1
NA18983.hp2
NA19010.hp2
NA19066.hp1
NA19066.hp2
 intron_variant MODIFIER c.1213+3617C>G
c.1213+3617C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78835739
chr5:78835775 C
C
 G
G
 36 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(33): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0019t0022g0233
a0003c0004t0014g0164
a0006c0020t0003g0127
 36 HG00438.hp2
HG00558.hp1
HG01261.hp2
others(33): Show 
HG00438.hp2
HG00558.hp1
HG01261.hp2
HG01891.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01993.hp2
HG02135.hp1
HG03130.hp1
HG03491.hp2
HG03492.hp2
HG03654.hp2
HG04115.hp2
HG04199.hp2
NA18942.hp1
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18963.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19077.hp2
NA19088.hp2
NA19240.hp1
 intron_variant MODIFIER c.1213+3581G>C
c.1213+3581G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78835775
chr5:78835832 C
C
 T
T
 101 a0001c0001t0002g0039
a0001c0001t0002g0277
a0001c0001t0002g0317
others(98): Show 
a0001c0001t0002g0039
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0006g0356
a0001c0001t0013g0329
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0007c0012t0032g0180
 102 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(99): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01517.hp1
HG01891.hp1
HG01952.hp2
HG01978.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02886.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp2
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18960.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19043.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+3524G>A
c.1213+3524G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78835832
chr5:78835864 G
G
 A
A
 28 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(25): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0007c0012t0032g0180
 29 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(26): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01074.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1213+3492C>T
c.1213+3492C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78835864
chr5:78836029 T
T
 C
C
 33 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(30): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0003c0004t0014g0164
a0006c0020t0003g0127
 33 HG00438.hp2
HG00558.hp1
HG01261.hp2
others(30): Show 
HG00438.hp2
HG00558.hp1
HG01261.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01993.hp2
HG02135.hp1
HG03491.hp2
HG03492.hp2
HG03654.hp2
HG04115.hp2
HG04199.hp2
NA18942.hp1
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18963.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19077.hp2
NA19088.hp2
 intron_variant MODIFIER c.1213+3327A>G
c.1213+3327A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78836029
chr5:78836146 T
T
 C
C
 100 a0001c0001t0002g0039
a0001c0001t0002g0277
a0001c0001t0002g0317
others(97): Show 
a0001c0001t0002g0039
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0006g0356
a0001c0001t0013g0329
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0007c0012t0032g0180
 101 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(98): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01517.hp1
HG01891.hp1
HG01952.hp2
HG01978.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02886.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp2
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18960.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19043.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+3210A>G
c.1213+3210A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78836146
chr5:78836154 C
C
 T
T
 1 a0001c0001t0005g0208
a0001c0001t0005g0208
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.1213+3202G>A
c.1213+3202G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78836154
chr5:78836318 C
C
 T
T
 1 a0002c0002t0014g0106
a0002c0002t0014g0106
 1 NA18978.hp1
NA18978.hp1
 intron_variant MODIFIER c.1213+3038G>A
c.1213+3038G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78836318
chr5:78836331 G
G
 T
T
 1 a0003c0004t0012g0123
a0003c0004t0012g0123
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.1213+3025C>A
c.1213+3025C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78836331
chr5:78836371 T
T
 C
C
 1 a0001c0003t0034g0071
a0001c0003t0034g0071
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.1213+2985A>G
c.1213+2985A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78836371
chr5:78836389 G
G
 A
A
 5 a0001c0003t0006g0212
a0001c0003t0009g0281
a0001c0003t0010g0157
others(2): Show 
a0001c0003t0006g0212
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0041g0155
a0003c0014t0015g0202
 5 HG00323.hp2
HG01515.hp2
HG02040.hp2
others(2): Show 
HG00323.hp2
HG01515.hp2
HG02040.hp2
HG02735.hp2
HG04115.hp1
 intron_variant MODIFIER c.1213+2967C>T
c.1213+2967C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78836389
chr5:78836563 C
C
 T
T
 1 a0002c0002t0011g0234
a0002c0002t0011g0234
 1 NA18612.hp1
NA18612.hp1
 intron_variant MODIFIER c.1213+2793G>A
c.1213+2793G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78836563
chr5:78836573 A
A
 G
G
 101 a0001c0001t0002g0039
a0001c0001t0002g0277
a0001c0001t0002g0317
others(98): Show 
a0001c0001t0002g0039
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0006g0356
a0001c0001t0013g0329
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0007c0012t0032g0180
 102 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(99): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01517.hp1
HG01891.hp1
HG01952.hp2
HG01978.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02886.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp2
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18960.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19043.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+2783T>C
c.1213+2783T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78836573
chr5:78836622 C
C
 A
A
 5 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(2): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0003g0050
a0001c0003t0005g0060
 5 NA18947.hp1
NA18962.hp1
NA18988.hp1
others(2): Show 
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
 intron_variant MODIFIER c.1213+2734G>T
c.1213+2734G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78836622
chr5:78836640 C
C
 A
A
 101 a0001c0001t0002g0039
a0001c0001t0002g0277
a0001c0001t0002g0317
others(98): Show 
a0001c0001t0002g0039
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0006g0356
a0001c0001t0013g0329
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0007c0012t0032g0180
 102 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(99): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01517.hp1
HG01891.hp1
HG01952.hp2
HG01978.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02886.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp2
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18960.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19043.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+2716G>T
c.1213+2716G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78836640
chr5:78836682 A
A
 G
G
 101 a0001c0001t0002g0039
a0001c0001t0002g0277
a0001c0001t0002g0317
others(98): Show 
a0001c0001t0002g0039
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0006g0356
a0001c0001t0013g0329
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0007c0012t0032g0180
 102 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(99): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01517.hp1
HG01891.hp1
HG01952.hp2
HG01978.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02886.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp2
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18960.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19043.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+2674T>C
c.1213+2674T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78836682
chr5:78836753 C
C
 T
T
 1 a0001c0001t0007g0115
a0001c0001t0007g0115
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.1213+2603G>A
c.1213+2603G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78836753
chr5:78836797 T
T
 C
C
 94 a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0004g0337
others(91): Show 
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0004g0337
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0007g0132
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0018g0057
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0006g0191
a0002c0002t0006g0211
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0055g0094
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0014t0015g0202
a0005c0016t0002g0237
 94 HG00323.hp2
HG00408.hp1
HG00544.hp1
others(91): Show 
HG00323.hp2
HG00408.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00733.hp1
HG01069.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01346.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01975.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02647.hp1
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp2
HG03490.hp1
HG03491.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04204.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18946.hp1
NA18947.hp1
NA18949.hp1
NA18951.hp1
NA18954.hp1
NA18961.hp2
NA18962.hp1
NA18968.hp1
NA18968.hp2
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp1
NA18992.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19010.hp1
NA19043.hp2
NA19062.hp2
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1213+2559A>G
c.1213+2559A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78836797
chr5:78836800 G
G
 A
A
 101 a0001c0001t0002g0039
a0001c0001t0002g0277
a0001c0001t0002g0317
others(98): Show 
a0001c0001t0002g0039
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0006g0356
a0001c0001t0013g0329
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0007c0012t0032g0180
 102 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(99): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01517.hp1
HG01891.hp1
HG01952.hp2
HG01978.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02886.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp2
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18960.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19043.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+2556C>T
c.1213+2556C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78836800
chr5:78836878 A
A
 G
G
 125 a0001c0001t0002g0039
a0001c0001t0002g0277
a0001c0001t0002g0317
others(122): Show 
a0001c0001t0002g0039
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0006g0356
a0001c0001t0013g0329
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0270
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0007c0012t0032g0180
 126 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(123): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01978.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03195.hp1
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18960.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19043.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+2478T>C
c.1213+2478T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78836878
chr5:78837038 C
C
 T
T
 72 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
others(69): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0006g0356
a0001c0001t0013g0329
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0002g0128
 72 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(69): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01361.hp1
HG01517.hp1
HG01891.hp1
HG01978.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02523.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02698.hp1
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+2318G>A
c.1213+2318G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78837038
chr5:78837229 A
A
 C
C
 12 a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0006g0219
others(9): Show 
a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0018g0130
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0007t0004g0100
a0001c0007t0068g0111
 12 HG00741.hp1
HG01243.hp1
HG02717.hp1
others(9): Show 
HG00741.hp1
HG01243.hp1
HG02717.hp1
HG02809.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03209.hp2
HG03516.hp2
HG03540.hp2
NA19030.hp1
 intron_variant MODIFIER c.1213+2127T>G
c.1213+2127T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78837229
chr5:78837334 A
A
 G
G
 266 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(263): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0004g0328
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0018g0130
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 267 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(264): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19062.hp2
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+2022T>C
c.1213+2022T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78837334
chr5:78837524 T
T
 C
C
 1 a0001c0001t0001g0265
a0001c0001t0001g0265
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.1213+1832A>G
c.1213+1832A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78837524
chr5:78837839 A
A
 G
G
 1 a0001c0001t0039g0291
a0001c0001t0039g0291
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.1213+1517T>C
c.1213+1517T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78837839
chr5:78837898 G
G
 A
A
 7 a0001c0003t0002g0013
a0001c0003t0002g0269
a0001c0003t0002g0349
others(4): Show 
a0001c0003t0002g0013
a0001c0003t0002g0269
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0012g0089
a0001c0003t0012g0350
a0001c0003t0027g0114
 7 HG00733.hp1
HG01168.hp2
HG02258.hp2
others(4): Show 
HG00733.hp1
HG01168.hp2
HG02258.hp2
HG02572.hp2
HG02647.hp1
HG03041.hp1
HG03195.hp2
 intron_variant MODIFIER c.1213+1458C>T
c.1213+1458C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78837898
chr5:78837930 G
G
 A
A
 7 a0001c0001t0003g0063
a0001c0001t0005g0075
a0001c0001t0005g0076
others(4): Show 
a0001c0001t0003g0063
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0011g0046
 7 HG00738.hp1
HG01069.hp2
HG01071.hp2
others(4): Show 
HG00738.hp1
HG01069.hp2
HG01071.hp2
HG01433.hp1
HG01993.hp1
HG04184.hp2
NA18947.hp2
 intron_variant MODIFIER c.1213+1426C>T
c.1213+1426C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78837930
chr5:78838083 T
T
 C
C
 1 a0001c0001t0001g0321
a0001c0001t0001g0321
 1 NA19074.hp1
NA19074.hp1
 intron_variant MODIFIER c.1213+1273A>G
c.1213+1273A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78838083
chr5:78838222 C
C
 G
G
 1 a0001c0001t0034g0072
a0001c0001t0034g0072
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1213+1134G>C
c.1213+1134G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78838222
chr5:78838348 A
A
 G
G
 5 a0002c0002t0002g0179
a0002c0002t0002g0314
a0002c0002t0003g0137
others(2): Show 
a0002c0002t0002g0179
a0002c0002t0002g0314
a0002c0002t0003g0137
a0002c0002t0009g0136
a0002c0002t0009g0138
 5 HG00544.hp1
HG02040.hp1
NA18979.hp1
others(2): Show 
HG00544.hp1
HG02040.hp1
NA18979.hp1
NA19084.hp1
NA19085.hp2
 intron_variant MODIFIER c.1213+1008T>C
c.1213+1008T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78838348
chr5:78838407 G
G
 A
A
 32 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(29): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0021t0003g0358
a0007c0012t0032g0180
 32 HG00544.hp2
HG00733.hp1
HG01069.hp1
others(29): Show 
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01981.hp1
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02258.hp2
HG02572.hp2
HG02647.hp1
HG02738.hp1
HG03041.hp1
HG03195.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1213+949C>T
c.1213+949C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78838407
chr5:78838426 G
G
 A
A
 2 a0001c0001t0002g0201
a0001c0001t0011g0242
a0001c0001t0002g0201
a0001c0001t0011g0242
 2 NA18988.hp2
NA18989.hp1
NA18988.hp2
NA18989.hp1
 intron_variant MODIFIER c.1213+930C>T
c.1213+930C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78838426
chr5:78838724 G
G
 A
A
 1 a0001c0005t0035g0165
a0001c0005t0035g0165
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.1213+632C>T
c.1213+632C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78838724
chr5:78838845 C
C
 T
T
 41 a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
others(38): Show 
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0028g0051
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0022t0006g0359
a0003c0014t0015g0202
a0005c0016t0002g0237
 41 HG00323.hp2
HG01109.hp2
HG01243.hp2
others(38): Show 
HG00323.hp2
HG01109.hp2
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03139.hp1
HG03195.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG04115.hp1
NA18906.hp1
NA18906.hp2
NA19043.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.1213+511G>A
c.1213+511G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78838845
chr5:78838855 TC
TC
 T
T
 62 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
others(59): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0002g0128
 62 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(59): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02523.hp1
HG02698.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1213+500delG
c.1213+500delG
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78838855
chr5:78839065 C
C
 T
T
 1 a0001c0001t0020g0290
a0001c0001t0020g0290
 1 NA19077.hp2
NA19077.hp2
 intron_variant MODIFIER c.1213+291G>A
c.1213+291G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78839065
chr5:78839143 CAAG
CAAG
 C
C
 32 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(29): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0021t0003g0358
a0007c0012t0032g0180
 32 HG00544.hp2
HG00733.hp1
HG01069.hp1
others(29): Show 
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01981.hp1
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02258.hp2
HG02572.hp2
HG02647.hp1
HG02738.hp1
HG03041.hp1
HG03195.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1213+210_1213+212d
others(5): Show 
c.1213+210_1213+212delCTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78839143
chr5:78839207 G
G
 C
C
 37 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(34): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0003c0004t0014g0164
a0006c0020t0003g0127
 37 HG00438.hp2
HG00558.hp1
HG01261.hp2
others(34): Show 
HG00438.hp2
HG00558.hp1
HG01261.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01993.hp2
HG02135.hp1
HG03130.hp1
HG03491.hp2
HG03492.hp2
HG03654.hp2
HG04115.hp2
HG04199.hp2
NA18942.hp1
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18963.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19077.hp2
NA19088.hp2
NA19240.hp1
 intron_variant MODIFIER c.1213+149C>G
c.1213+149C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78839207
chr5:78839303 C
C
 T
T
 1 a0003c0004t0007g0152
a0003c0004t0007g0152
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1213+53G>A
c.1213+53G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78839303
chr5:78839322 A
A
 G
G
 3 a0001c0003t0002g0354
a0001c0003t0035g0357
a0001c0005t0076g0268
a0001c0003t0002g0354
a0001c0003t0035g0357
a0001c0005t0076g0268
 3 HG02258.hp1
HG02451.hp1
HG02723.hp1
HG02258.hp1
HG02451.hp1
HG02723.hp1
 intron_variant MODIFIER c.1213+34T>C
c.1213+34T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 6/7 chr5 78839322
chr5:78839453 T
T
 G
G
 89 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
others(86): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 90 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(87): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01517.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02523.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp2
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18960.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19043.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-27A>C
c.1143-27A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78839453
chr5:78839614 C
C
 T
T
 1 a0002c0002t0003g0025
a0002c0002t0003g0025
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.1143-188G>A
c.1143-188G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78839614
chr5:78839690 A
A
 G
G
 1 a0001c0003t0018g0057
a0001c0003t0018g0057
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.1143-264T>C
c.1143-264T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78839690
chr5:78839695 T
T
 C
C
 1 a0001c0001t0006g0356
a0001c0001t0006g0356
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1143-269A>G
c.1143-269A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78839695
chr5:78839777 A
A
 G
G
 2 a0001c0003t0002g0253
a0001c0005t0075g0112
a0001c0003t0002g0253
a0001c0005t0075g0112
 2 HG02647.hp2
HG02976.hp1
HG02647.hp2
HG02976.hp1
 intron_variant MODIFIER c.1143-351T>C
c.1143-351T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78839777
chr5:78839842 G
G
 A
A
 1 a0002c0002t0009g0309
a0002c0002t0009g0309
 1 NA19003.hp1
NA19003.hp1
 intron_variant MODIFIER c.1143-416C>T
c.1143-416C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78839842
chr5:78839947 C
C
 T
T
 2 a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0017g0255
a0001c0005t0017g0353
 2 HG01884.hp1
HG02622.hp1
HG01884.hp1
HG02622.hp1
 intron_variant MODIFIER c.1143-521G>A
c.1143-521G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78839947
chr5:78839995 A
A
 G
G
 4 a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0004g0122
others(1): Show 
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0004g0122
a0003c0004t0012g0123
 5 HG01257.hp2
HG01258.hp2
HG01433.hp2
others(2): Show 
HG01257.hp2
HG01258.hp2
HG01433.hp2
HG01952.hp2
HG02293.hp1
 intron_variant MODIFIER c.1143-569T>C
c.1143-569T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78839995
chr5:78840026 T
T
 G
G
 10 a0002c0002t0001g0069
a0002c0002t0001g0287
a0002c0002t0003g0068
others(7): Show 
a0002c0002t0001g0069
a0002c0002t0001g0287
a0002c0002t0003g0068
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0325
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0030g0037
 10 HG00438.hp1
NA18944.hp1
NA18951.hp2
others(7): Show 
HG00438.hp1
NA18944.hp1
NA18951.hp2
NA18970.hp1
NA18975.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19084.hp2
 intron_variant MODIFIER c.1143-600A>C
c.1143-600A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78840026
chr5:78840075 T
T
 C
C
 17 a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
others(14): Show 
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0018g0057
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0022t0006g0359
a0003c0014t0015g0202
a0005c0016t0002g0237
 17 HG00323.hp2
HG01515.hp2
HG02040.hp2
others(14): Show 
HG00323.hp2
HG01515.hp2
HG02040.hp2
HG02055.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG03139.hp1
HG04115.hp1
NA19043.hp2
NA20129.hp2
 intron_variant MODIFIER c.1143-649A>G
c.1143-649A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78840075
chr5:78840230 C
C
 A
A
 3 a0001c0001t0002g0209
a0001c0001t0003g0327
a0001c0001t0005g0208
a0001c0001t0002g0209
a0001c0001t0003g0327
a0001c0001t0005g0208
 3 HG00621.hp2
HG02132.hp1
HG02155.hp1
HG00621.hp2
HG02132.hp1
HG02155.hp1
 intron_variant MODIFIER c.1143-804G>T
c.1143-804G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78840230
chr5:78840274 A
A
 C
C
 5 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(2): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0003g0050
a0001c0003t0005g0060
 5 NA18947.hp1
NA18962.hp1
NA18988.hp1
others(2): Show 
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
 intron_variant MODIFIER c.1143-848T>G
c.1143-848T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78840274
chr5:78840274 A
A
 G
G
 40 a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
others(37): Show 
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0334
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0007c0012t0032g0180
 40 HG00544.hp2
HG00733.hp1
HG01069.hp1
others(37): Show 
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01891.hp1
HG01981.hp1
HG02056.hp2
HG02071.hp1
HG02145.hp1
HG02155.hp2
HG02258.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02717.hp2
HG02738.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03041.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03540.hp1
HG03927.hp1
HG04204.hp2
NA19063.hp1
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1143-848T>C
c.1143-848T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78840274
chr5:78840316 A
A
 T
T
 8 a0001c0003t0006g0267
a0001c0003t0008g0116
a0001c0003t0031g0119
others(5): Show 
a0001c0003t0006g0267
a0001c0003t0008g0116
a0001c0003t0031g0119
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
 8 HG02145.hp1
HG02615.hp1
HG02615.hp2
others(5): Show 
HG02145.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02965.hp2
HG03209.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.1143-890T>A
c.1143-890T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78840316
chr5:78840348 C
C
 T
T
 1 a0002c0002t0005g0325
a0002c0002t0005g0325
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.1143-922G>A
c.1143-922G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78840348
chr5:78840350 T
T
 C
C
 92 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
others(89): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 93 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(90): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01517.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02523.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02886.hp2
HG02896.hp1
HG03017.hp1
HG03017.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp2
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18960.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19043.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-924A>G
c.1143-924A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78840350
chr5:78840445 A
A
 G
G
 92 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
others(89): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 93 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(90): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01517.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02523.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02886.hp2
HG02896.hp1
HG03017.hp1
HG03017.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp2
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18960.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19043.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-1019T>C
c.1143-1019T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78840445
chr5:78840563 C
C
 A
A
 2 a0001c0001t0004g0009
a0001c0001t0006g0219
a0001c0001t0004g0009
a0001c0001t0006g0219
 2 HG03098.hp2
HG03209.hp2
HG03098.hp2
HG03209.hp2
 intron_variant MODIFIER c.1143-1137G>T
c.1143-1137G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78840563
chr5:78840569 C
C
 G
G
 1 a0001c0003t0006g0156
a0001c0003t0006g0156
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.1143-1143G>C
c.1143-1143G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78840569
chr5:78840612 C
C
 G
G
 178 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
others(175): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0013g0329
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0007c0012t0032g0180
 179 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(176): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04204.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19084.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-1186G>C
c.1143-1186G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78840612
chr5:78840633 C
C
 T
T
 86 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(83): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0003c0014t0015g0202
a0005c0016t0002g0237
a0007c0012t0032g0180
 86 HG00323.hp2
HG00544.hp2
HG00733.hp1
others(83): Show 
HG00323.hp2
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01981.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02145.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03927.hp1
HG04115.hp1
HG04204.hp2
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19043.hp2
NA19063.hp1
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1143-1207G>A
c.1143-1207G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78840633
chr5:78840642 T
T
 C
C
 41 a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
others(38): Show 
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0028g0051
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0022t0006g0359
a0003c0014t0015g0202
a0005c0016t0002g0237
 41 HG00323.hp2
HG01109.hp2
HG01243.hp2
others(38): Show 
HG00323.hp2
HG01109.hp2
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03139.hp1
HG03195.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG04115.hp1
NA18906.hp1
NA18906.hp2
NA19043.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.1143-1216A>G
c.1143-1216A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78840642
chr5:78840764 C
C
 T
T
 1 a0001c0001t0005g0172
a0001c0001t0005g0172
 1 HG00408.hp2
HG00408.hp2
 intron_variant MODIFIER c.1143-1338G>A
c.1143-1338G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78840764
chr5:78840829 G
G
 A
A
 45 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(42): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0007c0012t0032g0180
 45 HG00544.hp2
HG00733.hp1
HG01069.hp1
others(42): Show 
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01891.hp1
HG01981.hp1
HG02056.hp2
HG02071.hp1
HG02145.hp1
HG02155.hp2
HG02258.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02717.hp2
HG02738.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03041.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03540.hp1
HG03927.hp1
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1143-1403C>T
c.1143-1403C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78840829
chr5:78840891 C
C
 T
T
 3 a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0006g0219
a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0006g0219
 3 HG02717.hp1
HG03098.hp2
HG03209.hp2
HG02717.hp1
HG03098.hp2
HG03209.hp2
 intron_variant MODIFIER c.1143-1465G>A
c.1143-1465G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78840891
chr5:78840908 C
C
 A
A
 4 a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
others(1): Show 
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
 4 HG01884.hp2
HG01891.hp2
HG03130.hp1
others(1): Show 
HG01884.hp2
HG01891.hp2
HG03130.hp1
NA19240.hp1
 intron_variant MODIFIER c.1143-1482G>T
c.1143-1482G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78840908
chr5:78840932 T
T
 C
C
 151 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
others(148): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0013g0329
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
a0003c0014t0015g0202
a0005c0016t0002g0237
a0007c0012t0032g0180
 151 HG00099.hp1
HG00140.hp2
HG00323.hp2
others(148): Show 
HG00099.hp1
HG00140.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00741.hp2
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03710.hp1
HG03927.hp1
HG04115.hp1
HG04204.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19084.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-1506A>G
c.1143-1506A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78840932
chr5:78841032 C
C
 T
T
 6 a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0018g0130
others(3): Show 
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0018g0130
a0001c0001t0031g0324
a0001c0007t0004g0100
a0001c0007t0068g0111
 6 HG02809.hp1
HG02976.hp2
HG03041.hp2
others(3): Show 
HG02809.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03516.hp2
HG03540.hp2
 intron_variant MODIFIER c.1143-1606G>A
c.1143-1606G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841032
chr5:78841132 G
G
 GTAC
GTAC
 18 a0001c0001t0001g0289
a0001c0001t0002g0104
a0001c0001t0003g0021
others(15): Show 
a0001c0001t0001g0289
a0001c0001t0002g0104
a0001c0001t0003g0021
a0001c0001t0003g0159
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0004g0058
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0008g0040
a0001c0001t0013g0170
a0001c0001t0014g0189
a0001c0001t0040g0288
a0001c0007t0036g0259
a0001c0007t0077g0070
 18 HG00738.hp1
HG01069.hp2
HG01071.hp2
others(15): Show 
HG00738.hp1
HG01069.hp2
HG01071.hp2
HG01167.hp1
HG02738.hp2
HG02809.hp1
HG02922.hp1
HG03098.hp1
HG03516.hp2
HG03654.hp1
HG04199.hp1
NA18942.hp1
NA18959.hp1
NA18968.hp2
NA18972.hp1
NA18994.hp1
NA19030.hp2
NA19066.hp1
 intron_variant MODIFIER c.1143-1709_1143-170
others(7): Show 
c.1143-1709_1143-1707dupGTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841132
chr5:78841132 G
G
 GTACTAC
GTACTAC
 6 a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0010g0244
others(3): Show 
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0010g0244
a0001c0001t0011g0033
a0001c0018t0002g0016
a0003c0004t0001g0154
 6 HG01884.hp2
HG02602.hp1
HG03654.hp2
others(3): Show 
HG01884.hp2
HG02602.hp1
HG03654.hp2
NA18954.hp2
NA18957.hp2
NA18970.hp2
 intron_variant MODIFIER c.1143-1712_1143-170
others(10): Show 
c.1143-1712_1143-1707dupGTAGTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841132
chr5:78841132 G
G
 GTACTACT
others(2): Show 
GTACTACTAC
 19 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(16): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0201
a0001c0001t0003g0019
a0001c0001t0003g0093
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0278
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0003t0006g0156
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0019t0022g0233
a0006c0020t0003g0127
 19 HG01261.hp2
HG01891.hp2
HG02135.hp1
others(16): Show 
HG01261.hp2
HG01891.hp2
HG02135.hp1
HG02572.hp1
HG02622.hp2
HG03130.hp1
HG03491.hp2
HG03492.hp2
HG04199.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18960.hp2
NA18972.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19088.hp2
NA19240.hp1
 intron_variant MODIFIER c.1143-1715_1143-170
others(13): Show 
c.1143-1715_1143-1707dupGTAGTAGTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841132
chr5:78841132 G
G
 GTACTACT
others(5): Show 
GTACTACTACTAC
 10 a0001c0001t0021g0347
a0001c0003t0002g0101
a0001c0003t0006g0274
others(7): Show 
a0001c0001t0021g0347
a0001c0003t0002g0101
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0069g0273
a0002c0002t0006g0014
a0002c0013t0017g0015
 10 HG01496.hp1
HG02818.hp2
HG02895.hp2
others(7): Show 
HG01496.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG03195.hp1
HG03516.hp1
NA18963.hp1
 intron_variant MODIFIER c.1143-1718_1143-170
others(16): Show 
c.1143-1718_1143-1707dupGTAGTAGTAGTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841132
chr5:78841132 G
G
 GTACTACT
others(8): Show 
GTACTACTACTACTAC
 9 a0001c0003t0002g0270
a0001c0003t0012g0166
a0002c0002t0003g0306
others(6): Show 
a0001c0003t0002g0270
a0001c0003t0012g0166
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0019g0303
a0002c0002t0026g0176
a0002c0002t0030g0304
a0002c0002t0042g0224
a0003c0004t0002g0128
 9 HG00423.hp2
HG01109.hp2
HG01243.hp2
others(6): Show 
HG00423.hp2
HG01109.hp2
HG01243.hp2
HG01361.hp1
HG01978.hp2
NA18941.hp2
NA18948.hp1
NA18949.hp2
NA19068.hp2
 intron_variant MODIFIER c.1143-1721_1143-170
others(19): Show 
c.1143-1721_1143-1707dupGTAGTAGTAGTAGTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841132
chr5:78841132 G
G
 GTACTACT
others(11): Show 
GTACTACTACTACTACTAC
 2 a0001c0003t0056g0022
a0002c0002t0003g0246
a0001c0003t0056g0022
a0002c0002t0003g0246
 2 NA19057.hp2
NA20805.hp2
NA19057.hp2
NA20805.hp2
 intron_variant MODIFIER c.1143-1724_1143-170
others(22): Show 
c.1143-1724_1143-1707dupGTAGTAGTAGTAGTAGTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841132
chr5:78841132 G
G
 GTACTACT
others(14): Show 
GTACTACTACTACTACTACTAC
 1 a0001c0001t0013g0329
a0001c0001t0013g0329
 1 NA18953.hp2
NA18953.hp2
 intron_variant MODIFIER c.1143-1727_1143-170
others(25): Show 
c.1143-1727_1143-1707dupGTAGTAGTAGTAGTAGTAGTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841132
chr5:78841132 GTACTAC
GTACTAC
 G
G
 8 a0002c0002t0001g0231
a0002c0002t0001g0299
a0002c0002t0001g0345
others(5): Show 
a0002c0002t0001g0231
a0002c0002t0001g0299
a0002c0002t0001g0345
a0002c0002t0003g0137
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0009g0136
a0002c0002t0013g0300
 8 HG02683.hp2
NA18747.hp1
NA18949.hp1
others(5): Show 
HG02683.hp2
NA18747.hp1
NA18949.hp1
NA18954.hp1
NA18992.hp1
NA19065.hp1
NA19084.hp1
NA19085.hp2
 intron_variant MODIFIER c.1143-1712_1143-170
others(10): Show 
c.1143-1712_1143-1707delGTAGTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841132
chr5:78841132 GTACTACT
others(2): Show 
GTACTACTAC
 G
G
 11 a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0006g0204
others(8): Show 
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0294
a0002c0002t0007g0081
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0045g0302
a0002c0002t0067g0203
a0002c0002t0071g0280
 11 HG00558.hp2
HG00733.hp2
HG01106.hp1
others(8): Show 
HG00558.hp2
HG00733.hp2
HG01106.hp1
HG01517.hp1
HG02109.hp2
NA18612.hp2
NA18946.hp1
NA18951.hp1
NA18978.hp1
NA18994.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-1715_1143-170
others(13): Show 
c.1143-1715_1143-1707delGTAGTAGTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841132
chr5:78841156 C
C
 A
A
 1 a0001c0005t0032g0117
a0001c0005t0032g0117
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.1143-1730G>T
c.1143-1730G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841156
chr5:78841156 C
C
 CTAATAAT
others(11): Show 
CTAATAATAATAATAATAA
 1 a0003c0004t0003g0292
a0003c0004t0003g0292
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.1143-1731_1143-173
others(22): Show 
c.1143-1731_1143-1730insTTATTATTATTATTATTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841156
chr5:78841159 C
C
 A
A
 10 a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0006g0219
others(7): Show 
a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0006g0219
a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0002g0276
a0001c0005t0032g0117
a0002c0002t0038g0006
a0003c0004t0003g0292
 10 HG00741.hp1
HG01243.hp1
HG02280.hp1
others(7): Show 
HG00741.hp1
HG01243.hp1
HG02280.hp1
HG02559.hp1
HG02717.hp1
HG02965.hp1
HG03098.hp2
HG03209.hp2
NA19030.hp1
NA20752.hp1
 intron_variant MODIFIER c.1143-1733G>T
c.1143-1733G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841159
chr5:78841159 C
C
 CTAATAAT
others(14): Show 
CTAATAATAATAATAATAATAA
 2 a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0023g0148
a0003c0004t0023g0151
 2 HG00738.hp2
HG01070.hp1
HG00738.hp2
HG01070.hp1
 intron_variant MODIFIER c.1143-1734_1143-173
others(25): Show 
c.1143-1734_1143-1733insTTATTATTATTATTATTATTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841159
chr5:78841162 C
C
 A
A
 27 a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0006g0219
others(24): Show 
a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0006g0219
a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0002g0276
a0001c0005t0032g0117
a0001c0022t0006g0359
a0002c0002t0001g0298
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0309
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0038g0006
a0002c0002t0050g0008
a0003c0004t0003g0292
a0003c0004t0023g0148
a0003c0004t0023g0151
a0005c0016t0002g0237
 27 HG00408.hp1
HG00738.hp2
HG00741.hp1
others(24): Show 
HG00408.hp1
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01243.hp1
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02080.hp1
HG02280.hp1
HG02559.hp1
HG02717.hp1
HG02809.hp2
HG02965.hp1
HG03098.hp2
HG03209.hp2
HG04204.hp1
NA18961.hp2
NA18968.hp1
NA18985.hp1
NA18986.hp2
NA19002.hp1
NA19003.hp1
NA19030.hp1
NA19043.hp2
NA19074.hp2
NA20752.hp1
 intron_variant MODIFIER c.1143-1736G>T
c.1143-1736G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841162
chr5:78841162 C
C
 CTAATAA
CTAATAA
 3 a0001c0003t0018g0057
a0001c0003t0034g0071
a0001c0005t0035g0165
a0001c0003t0018g0057
a0001c0003t0034g0071
a0001c0005t0035g0165
 3 HG02559.hp2
HG03139.hp1
NA20129.hp2
HG02559.hp2
HG03139.hp1
NA20129.hp2
 intron_variant MODIFIER c.1143-1737_1143-173
others(10): Show 
c.1143-1737_1143-1736insTTATTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841162
chr5:78841162 C
C
 CTAATAAT
others(11): Show 
CTAATAATAATAATAATAA
 1 a0001c0001t0003g0214
a0001c0001t0003g0214
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.1143-1737_1143-173
others(22): Show 
c.1143-1737_1143-1736insTTATTATTATTATTATTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841162
chr5:78841162 C
C
 CTAATAAT
others(20): Show 
CTAATAATAATAATAATAATAATAATAA
 1 a0003c0004t0054g0142
a0003c0004t0054g0142
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.1143-1737_1143-173
others(31): Show 
c.1143-1737_1143-1736insTTATTATTATTATTATTATTATTATT
A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841162
chr5:78841165 C
C
 A
A
 48 a0001c0001t0002g0209
a0001c0001t0002g0261
a0001c0001t0003g0064
others(45): Show 
a0001c0001t0002g0209
a0001c0001t0002g0261
a0001c0001t0003g0064
a0001c0001t0003g0214
a0001c0001t0003g0327
a0001c0001t0004g0009
a0001c0001t0005g0172
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0250
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0002g0276
a0001c0003t0018g0057
a0001c0003t0034g0071
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0022t0006g0359
a0002c0002t0001g0298
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0003g0292
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0054g0142
a0005c0016t0002g0237
 48 HG00408.hp1
HG00408.hp2
HG00544.hp1
others(45): Show 
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00621.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01243.hp1
HG01261.hp1
HG01515.hp1
HG01517.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG02132.hp1
HG02155.hp1
HG02280.hp1
HG02559.hp1
HG02559.hp2
HG02698.hp2
HG02717.hp1
HG02809.hp2
HG02965.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03834.hp1
HG03942.hp2
HG04184.hp1
HG04204.hp1
NA18961.hp2
NA18968.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA19002.hp1
NA19003.hp1
NA19030.hp1
NA19043.hp2
NA19062.hp2
NA19068.hp1
NA19074.hp2
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.1143-1739G>T
c.1143-1739G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841165
chr5:78841165 C
C
 CTAATAAT
others(11): Show 
CTAATAATAATAATAATAA
 2 a0001c0001t0004g0328
a0003c0004t0049g0139
a0001c0001t0004g0328
a0003c0004t0049g0139
 2 HG03017.hp1
NA19043.hp1
HG03017.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-1740_1143-173
others(22): Show 
c.1143-1740_1143-1739insTTATTATTATTATTATTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841165
chr5:78841165 C
C
 CTAATAAT
others(14): Show 
CTAATAATAATAATAATAATAA
 2 a0003c0004t0002g0243
a0003c0004t0011g0007
a0003c0004t0002g0243
a0003c0004t0011g0007
 2 HG00673.hp2
NA18960.hp1
HG00673.hp2
NA18960.hp1
 intron_variant MODIFIER c.1143-1740_1143-173
others(25): Show 
c.1143-1740_1143-1739insTTATTATTATTATTATTATTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841165
chr5:78841165 C
C
 CTAATAAT
others(17): Show 
CTAATAATAATAATAATAATAATAA
 1 a0003c0004t0062g0133
a0003c0004t0062g0133
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.1143-1740_1143-173
others(28): Show 
c.1143-1740_1143-1739insTTATTATTATTATTATTATTATTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841165
chr5:78841168 C
C
 A
A
 70 a0001c0001t0001g0084
a0001c0001t0001g0110
a0001c0001t0002g0209
others(67): Show 
a0001c0001t0001g0084
a0001c0001t0001g0110
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0003g0064
a0001c0001t0003g0214
a0001c0001t0003g0327
a0001c0001t0004g0009
a0001c0001t0004g0328
a0001c0001t0005g0041
a0001c0001t0005g0172
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0250
a0001c0001t0020g0028
a0001c0001t0024g0182
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0018g0057
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0007t0004g0100
a0001c0022t0006g0359
a0002c0002t0001g0298
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0002g0243
a0003c0004t0003g0292
a0003c0004t0011g0007
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0005c0016t0002g0237
 70 HG00408.hp1
HG00408.hp2
HG00544.hp1
others(67): Show 
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01106.hp1
HG01175.hp1
HG01243.hp1
HG01261.hp1
HG01361.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp2
HG02132.hp1
HG02155.hp1
HG02258.hp1
HG02280.hp1
HG02559.hp1
HG02559.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02965.hp1
HG03017.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03540.hp2
HG03579.hp2
HG03834.hp1
HG03942.hp2
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18960.hp1
NA18961.hp2
NA18968.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19066.hp2
NA19068.hp1
NA19074.hp2
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.1143-1742G>T
c.1143-1742G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841168
chr5:78841168 C
C
 CTAA
CTAA
 6 a0001c0001t0002g0005
a0001c0001t0007g0181
a0001c0001t0010g0141
others(3): Show 
a0001c0001t0002g0005
a0001c0001t0007g0181
a0001c0001t0010g0141
a0001c0001t0010g0244
a0001c0001t0014g0199
a0001c0017t0002g0088
 6 HG01074.hp2
HG02886.hp1
HG03654.hp2
others(3): Show 
HG01074.hp2
HG02886.hp1
HG03654.hp2
HG03942.hp1
NA19088.hp1
NA21309.hp1
 intron_variant MODIFIER c.1143-1745_1143-174
others(7): Show 
c.1143-1745_1143-1743dupTTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841168
chr5:78841168 C
C
 CTAATAA
CTAATAA
 13 a0001c0001t0008g0040
a0001c0003t0002g0101
a0001c0003t0006g0103
others(10): Show 
a0001c0001t0008g0040
a0001c0003t0002g0101
a0001c0003t0006g0103
a0001c0005t0076g0268
a0001c0015t0027g0102
a0002c0002t0001g0231
a0002c0002t0001g0299
a0002c0002t0001g0345
a0002c0002t0003g0137
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0009g0136
a0002c0002t0013g0300
 13 HG02055.hp2
HG02451.hp1
HG02683.hp2
others(10): Show 
HG02055.hp2
HG02451.hp1
HG02683.hp2
HG02922.hp2
HG03516.hp1
NA18747.hp1
NA18942.hp1
NA18949.hp1
NA18954.hp1
NA18992.hp1
NA19065.hp1
NA19084.hp1
NA19085.hp2
 intron_variant MODIFIER c.1143-1748_1143-174
others(10): Show 
c.1143-1748_1143-1743dupTTATTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841168
chr5:78841168 C
C
 CTAATAAT
others(2): Show 
CTAATAATAA
 6 a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0007g0081
others(3): Show 
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0007g0081
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0045g0302
 6 HG00558.hp2
NA18612.hp2
NA18946.hp1
others(3): Show 
HG00558.hp2
NA18612.hp2
NA18946.hp1
NA18951.hp1
NA18978.hp1
NA18994.hp2
 intron_variant MODIFIER c.1143-1751_1143-174
others(13): Show 
c.1143-1751_1143-1743dupTTATTATTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841168
chr5:78841168 C
C
 CTAATAAT
others(5): Show 
CTAATAATAATAA
 1 a0001c0003t0056g0022
a0001c0003t0056g0022
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.1143-1754_1143-174
others(16): Show 
c.1143-1754_1143-1743dupTTATTATTATTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841168
chr5:78841168 C
C
 CTAATAAT
others(8): Show 
CTAATAATAATAATAA
 1 a0003c0004t0001g0154
a0003c0004t0001g0154
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.1143-1757_1143-174
others(19): Show 
c.1143-1757_1143-1743dupTTATTATTATTATTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841168
chr5:78841168 C
C
 CTAATAAT
others(14): Show 
CTAATAATAATAATAATAATAA
 2 a0001c0003t0006g0274
a0001c0003t0069g0273
a0001c0003t0006g0274
a0001c0003t0069g0273
 2 HG02895.hp2
HG02897.hp1
HG02895.hp2
HG02897.hp1
 intron_variant MODIFIER c.1143-1743_1143-174
others(25): Show 
c.1143-1743_1143-1742insTTATTATTATTATTATTATTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841168
chr5:78841168 C
C
 CTAATAAT
others(17): Show 
CTAATAATAATAATAATAATAATAA
 7 a0001c0003t0006g0156
a0003c0004t0001g0153
a0003c0004t0001g0187
others(4): Show 
a0001c0003t0006g0156
a0003c0004t0001g0153
a0003c0004t0001g0187
a0003c0004t0004g0122
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0012g0123
 7 HG00099.hp2
HG00280.hp2
HG01433.hp2
others(4): Show 
HG00099.hp2
HG00280.hp2
HG01433.hp2
HG01952.hp2
HG02572.hp1
HG02886.hp2
HG03927.hp2
 intron_variant MODIFIER c.1143-1743_1143-174
others(28): Show 
c.1143-1743_1143-1742insTTATTATTATTATTATTATTATTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841168
chr5:78841168 C
C
 CTAATAAT
others(20): Show 
CTAATAATAATAATAATAATAATAATAA
 3 a0003c0004t0003g0283
a0003c0004t0033g0282
a0003c0004t0072g0323
a0003c0004t0003g0283
a0003c0004t0033g0282
a0003c0004t0072g0323
 3 HG01255.hp2
HG01358.hp2
HG02145.hp2
HG01255.hp2
HG01358.hp2
HG02145.hp2
 intron_variant MODIFIER c.1143-1743_1143-174
others(31): Show 
c.1143-1743_1143-1742insTTATTATTATTATTATTATTATTATT
A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841168
chr5:78841168 C
C
 CTACTAAT
others(8): Show 
CTACTAATAATAATAA
 1 a0002c0002t0002g0085
a0002c0002t0002g0085
 1 NA18963.hp2
NA18963.hp2
 intron_variant MODIFIER c.1143-1743_1143-174
others(19): Show 
c.1143-1743_1143-1742insTTATTATTATTAGTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841168
chr5:78841168 C
C
 CTACTAAT
others(14): Show 
CTACTAATAATAATAATAATAA
 4 a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0029g0108
others(1): Show 
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0029g0108
a0003c0004t0029g0109
 4 HG03490.hp2
HG03492.hp1
HG03669.hp1
others(1): Show 
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
 intron_variant MODIFIER c.1143-1743_1143-174
others(25): Show 
c.1143-1743_1143-1742insTTATTATTATTATTATTAGTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841168
chr5:78841168 C
C
 CTACTAAT
others(17): Show 
CTACTAATAATAATAATAATAATAA
 1 a0003c0004t0001g0124
a0003c0004t0001g0124
 1 HG02293.hp1
HG02293.hp1
 intron_variant MODIFIER c.1143-1743_1143-174
others(28): Show 
c.1143-1743_1143-1742insTTATTATTATTATTATTATTAGTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841168
chr5:78841168 C
C
 CTACTAAT
others(20): Show 
CTACTAATAATAATAATAATAATAATAA
 1 a0003c0004t0001g0001
a0003c0004t0001g0001
 2 HG01257.hp2
HG01258.hp2
HG01257.hp2
HG01258.hp2
 intron_variant MODIFIER c.1143-1743_1143-174
others(31): Show 
c.1143-1743_1143-1742insTTATTATTATTATTATTATTATTAGT
A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841168
chr5:78841168 C
C
 CTACTACT
others(2): Show 
CTACTACTAA
 10 a0001c0001t0001g0087
a0001c0001t0001g0135
a0001c0001t0002g0145
others(7): Show 
a0001c0001t0001g0087
a0001c0001t0001g0135
a0001c0001t0002g0145
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0020g0290
a0001c0003t0002g0078
a0003c0004t0014g0164
 10 HG00438.hp2
HG00558.hp1
HG01106.hp2
others(7): Show 
HG00438.hp2
HG00558.hp1
HG01106.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01993.hp2
HG02723.hp2
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.1143-1743_1143-174
others(13): Show 
c.1143-1743_1143-1742insTTAGTAGTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841168
chr5:78841168 C
C
 CTACTACT
others(5): Show 
CTACTACTAATAA
 3 a0001c0001t0004g0238
a0001c0001t0013g0227
a0001c0001t0051g0239
a0001c0001t0004g0238
a0001c0001t0013g0227
a0001c0001t0051g0239
 3 NA18953.hp1
NA18969.hp2
NA18985.hp2
NA18953.hp1
NA18969.hp2
NA18985.hp2
 intron_variant MODIFIER c.1143-1743_1143-174
others(16): Show 
c.1143-1743_1143-1742insTTATTAGTAGTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841168
chr5:78841168 C
C
 CTACTACT
others(8): Show 
CTACTACTAATAATAA
 8 a0001c0003t0002g0082
a0001c0005t0074g0073
a0001c0005t0075g0112
others(5): Show 
a0001c0003t0002g0082
a0001c0005t0074g0073
a0001c0005t0075g0112
a0002c0002t0001g0054
a0002c0002t0002g0055
a0002c0002t0009g0067
a0002c0002t0015g0053
a0002c0002t0019g0052
 8 HG00609.hp2
HG02109.hp1
HG02976.hp1
others(5): Show 
HG00609.hp2
HG02109.hp1
HG02976.hp1
HG03579.hp1
NA18943.hp1
NA18944.hp1
NA18993.hp2
NA18995.hp2
 intron_variant MODIFIER c.1143-1743_1143-174
others(19): Show 
c.1143-1743_1143-1742insTTATTATTAGTAGTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841168
chr5:78841168 C
C
 CTACTACT
others(14): Show 
CTACTACTAATAATAATAATAA
 1 a0003c0004t0003g0095
a0003c0004t0003g0095
 1 HG03017.hp2
HG03017.hp2
 intron_variant MODIFIER c.1143-1743_1143-174
others(25): Show 
c.1143-1743_1143-1742insTTATTATTATTATTAGTAGTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841168
chr5:78841168 C
C
 CTACTACT
others(17): Show 
CTACTACTAATAATAATAATAATAA
 1 a0001c0003t0002g0262
a0001c0003t0002g0262
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.1143-1743_1143-174
others(28): Show 
c.1143-1743_1143-1742insTTATTATTATTATTATTAGTAGTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841168
chr5:78841168 C
C
 CTACTACT
others(5): Show 
CTACTACTACTAA
 5 a0001c0001t0047g0043
a0002c0002t0003g0196
a0002c0002t0003g0197
others(2): Show 
a0001c0001t0047g0043
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0006g0206
a0002c0002t0057g0284
 5 HG01070.hp2
HG01071.hp1
HG01175.hp2
others(2): Show 
HG01070.hp2
HG01071.hp1
HG01175.hp2
HG04115.hp2
NA18986.hp1
 intron_variant MODIFIER c.1143-1743_1143-174
others(16): Show 
c.1143-1743_1143-1742insTTAGTAGTAGTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841168
chr5:78841168 C
C
 CTACTACT
others(8): Show 
CTACTACTACTAATAA
 15 a0001c0003t0002g0253
a0001c0003t0009g0281
a0001c0003t0010g0157
others(12): Show 
a0001c0003t0002g0253
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0041g0155
a0002c0002t0001g0183
a0002c0002t0001g0287
a0002c0002t0003g0068
a0002c0002t0006g0126
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0030g0037
a0002c0002t0052g0098
a0002c0002t0063g0198
a0002c0002t0066g0355
 15 HG00323.hp2
HG00741.hp2
HG01109.hp1
others(12): Show 
HG00323.hp2
HG00741.hp2
HG01109.hp1
HG01515.hp2
HG02004.hp1
HG02040.hp2
HG02293.hp2
HG02647.hp2
HG03225.hp1
HG03710.hp1
NA18975.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA20129.hp1
 intron_variant MODIFIER c.1143-1743_1143-174
others(19): Show 
c.1143-1743_1143-1742insTTATTAGTAGTAGTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841168
chr5:78841168 C
C
 CTACTACT
others(14): Show 
CTACTACTACTAATAATAATAA
 1 a0001c0003t0002g0342
a0001c0003t0002g0342
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.1143-1743_1143-174
others(25): Show 
c.1143-1743_1143-1742insTTATTATTATTAGTAGTAGTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841168
chr5:78841168 C
C
 CTACTACT
others(8): Show 
CTACTACTACTACTAA
 20 a0001c0001t0002g0317
a0001c0003t0002g0074
a0001c0003t0006g0212
others(17): Show 
a0001c0001t0002g0317
a0001c0003t0002g0074
a0001c0003t0006g0212
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0002c0002t0001g0069
a0002c0002t0002g0056
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0325
a0002c0002t0006g0191
a0002c0002t0006g0211
a0002c0002t0009g0066
a0002c0002t0023g0162
a0003c0014t0015g0202
 20 HG00438.hp1
HG00642.hp2
HG01346.hp2
others(17): Show 
HG00438.hp1
HG00642.hp2
HG01346.hp2
HG01975.hp2
HG02055.hp1
HG02129.hp1
HG02735.hp2
HG03471.hp1
HG03486.hp2
HG04115.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18970.hp1
NA18979.hp2
NA18984.hp2
NA19001.hp1
NA19084.hp2
NA19240.hp2
NA20805.hp1
 intron_variant MODIFIER c.1143-1743_1143-174
others(19): Show 
c.1143-1743_1143-1742insTTAGTAGTAGTAGTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841168
chr5:78841168 C
C
 CTACTACT
others(11): Show 
CTACTACTACTACTAATAA
 9 a0001c0003t0006g0254
a0001c0003t0012g0232
a0001c0003t0061g0252
others(6): Show 
a0001c0003t0006g0254
a0001c0003t0012g0232
a0001c0003t0061g0252
a0001c0005t0017g0255
a0002c0002t0001g0158
a0002c0002t0001g0185
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0011g0230
 9 HG00099.hp1
HG00140.hp2
HG00621.hp1
others(6): Show 
HG00099.hp1
HG00140.hp2
HG00621.hp1
HG01257.hp1
HG02132.hp2
HG02622.hp1
HG02895.hp1
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.1143-1743_1143-174
others(22): Show 
c.1143-1743_1143-1742insTTATTAGTAGTAGTAGTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841168
chr5:78841168 C
C
 CTACTACT
others(14): Show 
CTACTACTACTACTAATAATAA
 12 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(9): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0002g0013
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0005g0060
a0001c0003t0012g0089
a0001c0003t0014g0220
a0001c0003t0022g0229
a0001c0005t0017g0353
 12 HG00733.hp1
HG01168.hp2
HG01884.hp1
others(9): Show 
HG00733.hp1
HG01168.hp2
HG01884.hp1
HG02056.hp2
HG02258.hp2
HG03195.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
 intron_variant MODIFIER c.1143-1743_1143-174
others(25): Show 
c.1143-1743_1143-1742insTTATTATTAGTAGTAGTAGTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841168
chr5:78841168 C
C
 CTACTACT
others(17): Show 
CTACTACTACTACTAATAATAATAA
 4 a0001c0003t0002g0160
a0001c0003t0007g0132
a0001c0003t0025g0341
others(1): Show 
a0001c0003t0002g0160
a0001c0003t0007g0132
a0001c0003t0025g0341
a0001c0003t0058g0045
 4 HG01167.hp2
HG01192.hp1
HG01981.hp1
others(1): Show 
HG01167.hp2
HG01192.hp1
HG01981.hp1
HG03927.hp1
 intron_variant MODIFIER c.1143-1743_1143-174
others(28): Show 
c.1143-1743_1143-1742insTTATTATTATTAGTAGTAGTAGTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841168
chr5:78841168 C
C
 CTACTACT
others(11): Show 
CTACTACTACTACTACTAA
 8 a0001c0001t0002g0039
a0001c0001t0005g0038
a0001c0003t0002g0338
others(5): Show 
a0001c0001t0002g0039
a0001c0001t0005g0038
a0001c0003t0002g0338
a0001c0003t0060g0210
a0002c0002t0003g0247
a0002c0002t0005g0340
a0002c0002t0011g0234
a0002c0002t0019g0248
 8 HG00423.hp1
HG00544.hp2
HG00673.hp1
others(5): Show 
HG00423.hp1
HG00544.hp2
HG00673.hp1
HG02155.hp2
HG02523.hp1
NA18612.hp1
NA18969.hp1
NA19000.hp1
 intron_variant MODIFIER c.1143-1743_1143-174
others(22): Show 
c.1143-1743_1143-1742insTTAGTAGTAGTAGTAGTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841168
chr5:78841168 C
C
 CTACTACT
others(14): Show 
CTACTACTACTACTACTAATAA
 4 a0001c0003t0001g0326
a0001c0003t0002g0320
a0001c0003t0003g0334
others(1): Show 
a0001c0003t0001g0326
a0001c0003t0002g0320
a0001c0003t0003g0334
a0001c0003t0027g0114
 4 HG02071.hp1
HG02572.hp2
HG03490.hp1
others(1): Show 
HG02071.hp1
HG02572.hp2
HG03490.hp1
NA19085.hp1
 intron_variant MODIFIER c.1143-1743_1143-174
others(25): Show 
c.1143-1743_1143-1742insTTATTAGTAGTAGTAGTAGTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841168
chr5:78841168 C
C
 CTACTACT
others(17): Show 
CTACTACTACTACTACTAATAATAA
 2 a0001c0003t0012g0350
a0007c0012t0032g0180
a0001c0003t0012g0350
a0007c0012t0032g0180
 2 HG01074.hp1
HG02647.hp1
HG01074.hp1
HG02647.hp1
 intron_variant MODIFIER c.1143-1743_1143-174
others(28): Show 
c.1143-1743_1143-1742insTTATTATTAGTAGTAGTAGTAGTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841168
chr5:78841168 C
C
 CTACTACT
others(20): Show 
CTACTACTACTACTACTAATAATAATAA
 1 a0001c0003t0007g0352
a0001c0003t0007g0352
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.1143-1743_1143-174
others(31): Show 
c.1143-1743_1143-1742insTTATTATTATTAGTAGTAGTAGTAGT
A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841168
chr5:78841168 C
C
 CTACTACT
others(23): Show 
CTACTACTACTACTACTAATAATAATAATAA
 2 a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0028g0348
a0001c0003t0031g0119
 2 HG01891.hp1
HG03486.hp1
HG01891.hp1
HG03486.hp1
 intron_variant MODIFIER c.1143-1743_1143-174
others(34): Show 
c.1143-1743_1143-1742insTTATTATTATTATTAGTAGTAGTAGT
AGTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841168
chr5:78841168 C
C
 CTACTACT
others(14): Show 
CTACTACTACTACTACTACTAA
 5 a0002c0002t0001g0184
a0002c0002t0013g0216
a0002c0002t0013g0240
others(2): Show 
a0002c0002t0001g0184
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0033g0217
a0002c0002t0064g0285
 5 HG01168.hp1
HG01192.hp2
HG01255.hp1
others(2): Show 
HG01168.hp1
HG01192.hp2
HG01255.hp1
HG02698.hp1
NA18989.hp2
 intron_variant MODIFIER c.1143-1743_1143-174
others(25): Show 
c.1143-1743_1143-1742insTTAGTAGTAGTAGTAGTAGTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841168
chr5:78841168 C
C
 CTACTACT
others(20): Show 
CTACTACTACTACTACTACTAATAATAA
 1 a0001c0003t0070g0251
a0001c0003t0070g0251
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.1143-1743_1143-174
others(31): Show 
c.1143-1743_1143-1742insTTATTATTAGTAGTAGTAGTAGTAGT
A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841168
chr5:78841168 C
C
 CTACTACT
others(23): Show 
CTACTACTACTACTACTACTAATAATAATAA
 3 a0001c0003t0001g0344
a0001c0003t0006g0267
a0001c0003t0008g0116
a0001c0003t0001g0344
a0001c0003t0006g0267
a0001c0003t0008g0116
 3 HG02145.hp1
HG03209.hp1
HG04204.hp2
HG02145.hp1
HG03209.hp1
HG04204.hp2
 intron_variant MODIFIER c.1143-1743_1143-174
others(34): Show 
c.1143-1743_1143-1742insTTATTATTATTAGTAGTAGTAGTAGT
AGTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841168
chr5:78841168 C
C
 CTACTACT
others(17): Show 
CTACTACTACTACTACTACTACTAA
 3 a0001c0003t0002g0269
a0001c0003t0073g0099
a0001c0021t0003g0358
a0001c0003t0002g0269
a0001c0003t0073g0099
a0001c0021t0003g0358
 3 HG02615.hp2
HG02738.hp1
HG03041.hp1
HG02615.hp2
HG02738.hp1
HG03041.hp1
 intron_variant MODIFIER c.1143-1743_1143-174
others(28): Show 
c.1143-1743_1143-1742insTTAGTAGTAGTAGTAGTAGTAGTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841168
chr5:78841168 C
C
 CTACTACT
others(20): Show 
CTACTACTACTACTACTACTACTAATAA
 3 a0001c0003t0012g0177
a0001c0003t0022g0178
a0001c0005t0036g0275
a0001c0003t0012g0177
a0001c0003t0022g0178
a0001c0005t0036g0275
 3 HG03225.hp2
HG03471.hp2
HG03540.hp1
HG03225.hp2
HG03471.hp2
HG03540.hp1
 intron_variant MODIFIER c.1143-1743_1143-174
others(31): Show 
c.1143-1743_1143-1742insTTATTAGTAGTAGTAGTAGTAGTAGT
A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841168
chr5:78841168 C
C
 CTACTACT
others(23): Show 
CTACTACTACTACTACTACTACTAATAATAA
 2 a0001c0003t0015g0346
a0001c0008t0008g0118
a0001c0003t0015g0346
a0001c0008t0008g0118
 2 HG02615.hp1
HG03491.hp1
HG02615.hp1
HG03491.hp1
 intron_variant MODIFIER c.1143-1743_1143-174
others(34): Show 
c.1143-1743_1143-1742insTTATTATTAGTAGTAGTAGTAGTAGT
AGTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841168
chr5:78841168 C
C
 CTACTACT
others(20): Show 
CTACTACTACTACTACTACTACTACTAA
 1 a0001c0008t0002g0120
a0001c0008t0002g0120
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.1143-1743_1143-174
others(31): Show 
c.1143-1743_1143-1742insTTAGTAGTAGTAGTAGTAGTAGTAGT
A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841168
chr5:78841168 C
C
 CTACTACT
others(23): Show 
CTACTACTACTACTACTACTACTACTAATAA
 1 a0001c0003t0046g0343
a0001c0003t0046g0343
 1 HG01069.hp1
HG01069.hp1
 intron_variant MODIFIER c.1143-1743_1143-174
others(34): Show 
c.1143-1743_1143-1742insTTATTAGTAGTAGTAGTAGTAGTAGT
AGTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841168
chr5:78841171 A
A
 C
C
 26 a0001c0001t0001g0144
a0001c0001t0001g0236
a0001c0001t0003g0019
others(23): Show 
a0001c0001t0001g0144
a0001c0001t0001g0236
a0001c0001t0003g0019
a0001c0001t0004g0278
a0001c0001t0004g0337
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0297
a0001c0001t0018g0130
a0001c0001t0021g0347
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0007t0068g0111
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0002c0002t0019g0303
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0175
a0006c0020t0003g0127
 26 HG00280.hp1
HG00323.hp1
HG01258.hp1
others(23): Show 
HG00280.hp1
HG00323.hp1
HG01258.hp1
HG01358.hp1
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG02280.hp2
HG02622.hp2
HG02735.hp1
HG02809.hp1
HG02818.hp2
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03195.hp1
HG03516.hp2
HG03834.hp2
NA18942.hp2
NA18944.hp2
NA18949.hp2
NA18950.hp1
NA18963.hp1
NA19010.hp2
NA19088.hp2
NA19240.hp1
 intron_variant MODIFIER c.1143-1745T>G
c.1143-1745T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841171
chr5:78841174 A
A
 C
C
 3 a0001c0001t0006g0356
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0001t0006g0356
a0001c0018t0002g0016
a0001c0019t0022g0233
 3 HG01884.hp2
HG03130.hp1
HG03516.hp2
HG01884.hp2
HG03130.hp1
HG03516.hp2
 intron_variant MODIFIER c.1143-1748T>G
c.1143-1748T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841174
chr5:78841176 A
A
 G
G
 1 a0001c0003t0002g0262
a0001c0003t0002g0262
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.1143-1750T>C
c.1143-1750T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841176
chr5:78841177 A
A
 C
C
 1 a0001c0018t0002g0016
a0001c0018t0002g0016
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.1143-1751T>G
c.1143-1751T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841177
chr5:78841286 C
C
 T
T
 6 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0154
others(3): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0154
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0331
 6 HG02602.hp1
HG02698.hp2
HG03017.hp1
others(3): Show 
HG02602.hp1
HG02698.hp2
HG03017.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
 intron_variant MODIFIER c.1143-1860G>A
c.1143-1860G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841286
chr5:78841553 C
C
 G
G
 32 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(29): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0021t0003g0358
a0007c0012t0032g0180
 32 HG00544.hp2
HG00733.hp1
HG01069.hp1
others(29): Show 
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01981.hp1
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02258.hp2
HG02572.hp2
HG02647.hp1
HG02738.hp1
HG03041.hp1
HG03195.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1143-2127G>C
c.1143-2127G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841553
chr5:78841701 A
A
 T
T
 37 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(34): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0003c0004t0014g0164
a0006c0020t0003g0127
 37 HG00438.hp2
HG00558.hp1
HG01261.hp2
others(34): Show 
HG00438.hp2
HG00558.hp1
HG01261.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01993.hp2
HG02135.hp1
HG03130.hp1
HG03491.hp2
HG03492.hp2
HG03654.hp2
HG04115.hp2
HG04199.hp2
NA18942.hp1
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18963.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19077.hp2
NA19088.hp2
NA19240.hp1
 intron_variant MODIFIER c.1143-2275T>A
c.1143-2275T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841701
chr5:78841852 T
T
 C
C
 2 a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0011
a0001c0003t0007g0012
 2 HG02896.hp2
HG02897.hp2
HG02896.hp2
HG02897.hp2
 intron_variant MODIFIER c.1143-2426A>G
c.1143-2426A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78841852
chr5:78842030 G
G
 A
A
 13 a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
others(10): Show 
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
 13 HG01891.hp1
HG02145.hp1
HG02572.hp1
others(10): Show 
HG01891.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.1143-2604C>T
c.1143-2604C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78842030
chr5:78842099 C
C
 CCA
CCA
 71 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(68): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0104
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0006g0356
a0001c0001t0008g0040
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0018g0130
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0013
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0027g0114
a0001c0003t0060g0210
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0002c0002t0001g0231
a0002c0002t0003g0225
a0002c0002t0005g0241
a0002c0002t0006g0014
a0002c0002t0018g0308
a0003c0004t0014g0164
a0006c0020t0003g0127
 71 HG00438.hp2
HG00544.hp2
HG00558.hp1
others(68): Show 
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00733.hp1
HG01109.hp2
HG01168.hp2
HG01261.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01993.hp2
HG02056.hp2
HG02071.hp1
HG02135.hp1
HG02155.hp2
HG02258.hp2
HG02572.hp2
HG02647.hp1
HG02738.hp1
HG02896.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp2
HG04115.hp2
HG04199.hp2
NA18942.hp1
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18983.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18995.hp1
NA19000.hp2
NA19010.hp1
NA19062.hp2
NA19063.hp1
NA19065.hp1
NA19066.hp1
NA19077.hp2
NA19085.hp1
NA19088.hp2
NA19240.hp1
 intron_variant MODIFIER c.1143-2675_1143-267
others(6): Show 
c.1143-2675_1143-2674dupTG
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78842099
chr5:78842099 C
C
 CCACA
CCACA
 11 a0001c0001t0008g0131
a0001c0003t0001g0344
a0001c0003t0002g0160
others(8): Show 
a0001c0001t0008g0131
a0001c0003t0001g0344
a0001c0003t0002g0160
a0001c0003t0002g0342
a0001c0003t0007g0132
a0001c0003t0015g0346
a0001c0003t0025g0341
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0007c0012t0032g0180
 11 HG01069.hp1
HG01074.hp1
HG01167.hp2
others(8): Show 
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01192.hp1
HG01981.hp1
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA18952.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1143-2677_1143-267
others(8): Show 
c.1143-2677_1143-2674dupTGTG
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78842099
chr5:78842329 C
C
 G
G
 1 a0001c0001t0001g0134
a0001c0001t0001g0134
 1 NA18984.hp1
NA18984.hp1
 intron_variant MODIFIER c.1143-2903G>C
c.1143-2903G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78842329
chr5:78842372 T
T
 C
C
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-2946A>G
c.1143-2946A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78842372
chr5:78842438 T
T
 C
C
 3 a0001c0001t0001g0031
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0031
a0001c0001t0001g0168
a0001c0001t0001g0169
 3 NA18952.hp2
NA18983.hp1
NA19077.hp1
NA18952.hp2
NA18983.hp1
NA19077.hp1
 intron_variant MODIFIER c.1143-3012A>G
c.1143-3012A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78842438
chr5:78842515 C
C
 T
T
 1 a0001c0001t0059g0332
a0001c0001t0059g0332
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.1143-3089G>A
c.1143-3089G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78842515
chr5:78842690 C
C
 T
T
 1 a0001c0001t0014g0199
a0001c0001t0014g0199
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.1143-3264G>A
c.1143-3264G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78842690
chr5:78842710 C
C
 T
T
 1 a0001c0001t0018g0130
a0001c0001t0018g0130
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.1143-3284G>A
c.1143-3284G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78842710
chr5:78842764 G
G
 T
T
 1 a0001c0001t0005g0038
a0001c0001t0005g0038
 1 HG02523.hp1
HG02523.hp1
 intron_variant MODIFIER c.1143-3338C>A
c.1143-3338C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78842764
chr5:78842770 G
G
 T
T
 91 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
others(88): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 92 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(89): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01517.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02523.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02886.hp2
HG02896.hp1
HG03017.hp1
HG03017.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp2
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18960.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-3344C>A
c.1143-3344C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78842770
chr5:78842780 C
C
 CT
CT
 164 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
others(161): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0013g0329
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0007c0012t0032g0180
 165 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(162): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02523.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04204.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19043.hp1
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19084.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-3355dupA
c.1143-3355dupA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78842780
chr5:78842782 T
T
 TG
TG
 12 a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
others(9): Show 
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0018g0057
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0022t0006g0359
a0005c0016t0002g0237
 12 HG02055.hp2
HG02258.hp1
HG02451.hp1
others(9): Show 
HG02055.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02723.hp1
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG03139.hp1
NA19043.hp2
NA20129.hp2
 intron_variant MODIFIER c.1143-3357_1143-335
others(5): Show 
c.1143-3357_1143-3356insC
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78842782
chr5:78842883 C
C
 T
T
 1 a0001c0001t0003g0327
a0001c0001t0003g0327
 1 HG00621.hp2
HG00621.hp2
 intron_variant MODIFIER c.1143-3457G>A
c.1143-3457G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78842883
chr5:78842890 A
A
 C
C
 178 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
others(175): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0013g0329
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0007c0012t0032g0180
 179 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(176): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04204.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19084.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-3464T>G
c.1143-3464T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78842890
chr5:78843264 G
G
 A
A
 1 a0001c0001t0008g0279
a0001c0001t0008g0279
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1143-3838C>T
c.1143-3838C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78843264
chr5:78843417 C
C
 G
G
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-3991G>C
c.1143-3991G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78843417
chr5:78843434 T
T
 C
C
 5 a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
others(2): Show 
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0008g0065
a0001c0001t0008g0113
 5 HG00738.hp1
HG01069.hp2
HG01071.hp2
others(2): Show 
HG00738.hp1
HG01069.hp2
HG01071.hp2
HG01433.hp1
HG01993.hp1
 intron_variant MODIFIER c.1143-4008A>G
c.1143-4008A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78843434
chr5:78843556 G
G
 T
T
 1 a0003c0004t0062g0133
a0003c0004t0062g0133
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.1143-4130C>A
c.1143-4130C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78843556
chr5:78843585 TTTAAACT
others(6): Show 
TTTAAACTGCACAG
 T
T
 1 a0001c0001t0002g0218
a0001c0001t0002g0218
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1143-4172_1143-416
others(17): Show 
c.1143-4172_1143-4160delCTGTGCAGTTTAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78843585
chr5:78843810 G
G
 A
A
 65 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
others(62): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
 65 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(62): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02523.hp1
HG02698.hp1
HG02896.hp1
HG03225.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-4384C>T
c.1143-4384C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78843810
chr5:78844065 T
T
 C
C
 1 a0001c0001t0008g0030
a0001c0001t0008g0030
 1 NA19009.hp2
NA19009.hp2
 intron_variant MODIFIER c.1143-4639A>G
c.1143-4639A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78844065
chr5:78844236 T
T
 G
G
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-4810A>C
c.1143-4810A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78844236
chr5:78844278 A
A
 G
G
 1 a0001c0001t0065g0017
a0001c0001t0065g0017
 1 NA19066.hp2
NA19066.hp2
 intron_variant MODIFIER c.1143-4852T>C
c.1143-4852T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78844278
chr5:78844371 C
C
 T
T
 32 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(29): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0021t0003g0358
a0007c0012t0032g0180
 32 HG00544.hp2
HG00733.hp1
HG01069.hp1
others(29): Show 
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01981.hp1
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02258.hp2
HG02572.hp2
HG02647.hp1
HG02738.hp1
HG03041.hp1
HG03195.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1143-4945G>A
c.1143-4945G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78844371
chr5:78844570 C
C
 T
T
 178 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
others(175): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0013g0329
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0007c0012t0032g0180
 179 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(176): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04204.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19084.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-5144G>A
c.1143-5144G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78844570
chr5:78844703 G
G
 A
A
 5 a0001c0003t0002g0101
a0001c0003t0012g0232
a0001c0003t0061g0252
others(2): Show 
a0001c0003t0002g0101
a0001c0003t0012g0232
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
 5 HG01884.hp1
HG02622.hp1
HG02895.hp1
others(2): Show 
HG01884.hp1
HG02622.hp1
HG02895.hp1
HG03516.hp1
NA20300.hp1
 intron_variant MODIFIER c.1143-5277C>T
c.1143-5277C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78844703
chr5:78844950 C
C
 G
G
 38 a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
others(35): Show 
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
 38 HG00408.hp1
HG00544.hp1
HG00558.hp2
others(35): Show 
HG00408.hp1
HG00544.hp1
HG00558.hp2
HG01515.hp1
HG01517.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG02683.hp2
HG03834.hp1
HG03942.hp2
HG04184.hp1
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18954.hp1
NA18961.hp2
NA18968.hp1
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA20752.hp1
 intron_variant MODIFIER c.1143-5524G>C
c.1143-5524G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78844950
chr5:78845015 T
T
 C
C
 15 a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0002g0101
others(12): Show 
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0270
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0074g0073
 15 HG01109.hp2
HG01243.hp2
HG01884.hp1
others(12): Show 
HG01109.hp2
HG01243.hp2
HG01884.hp1
HG02109.hp1
HG02622.hp1
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA18906.hp1
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.1143-5589A>G
c.1143-5589A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78845015
chr5:78845306 C
C
 A
A
 3 a0001c0001t0001g0289
a0001c0001t0007g0181
a0001c0001t0040g0288
a0001c0001t0001g0289
a0001c0001t0007g0181
a0001c0001t0040g0288
 3 HG02738.hp2
HG03654.hp1
HG03942.hp1
HG02738.hp2
HG03654.hp1
HG03942.hp1
 intron_variant MODIFIER c.1143-5880G>T
c.1143-5880G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78845306
chr5:78845306 C
C
 T
T
 3 a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0006g0219
a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0006g0219
 3 HG02717.hp1
HG03098.hp2
HG03209.hp2
HG02717.hp1
HG03098.hp2
HG03209.hp2
 intron_variant MODIFIER c.1143-5880G>A
c.1143-5880G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78845306
chr5:78845597 C
C
 T
T
 1 a0001c0001t0008g0279
a0001c0001t0008g0279
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1143-6171G>A
c.1143-6171G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78845597
chr5:78845656 T
T
 G
G
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-6230A>C
c.1143-6230A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78845656
chr5:78845671 T
T
 C
C
 1 a0001c0001t0003g0064
a0001c0001t0003g0064
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.1143-6245A>G
c.1143-6245A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78845671
chr5:78845746 T
T
 A
A
 2 a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0029g0108
a0003c0004t0029g0109
 2 HG03490.hp2
HG03492.hp1
HG03490.hp2
HG03492.hp1
 intron_variant MODIFIER c.1143-6320A>T
c.1143-6320A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78845746
chr5:78845825 T
T
 C
C
 1 a0003c0004t0054g0142
a0003c0004t0054g0142
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.1143-6399A>G
c.1143-6399A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78845825
chr5:78846183 G
G
 T
T
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-6757C>A
c.1143-6757C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78846183
chr5:78846347 G
G
 T
T
 4 a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
others(1): Show 
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
 4 HG01884.hp2
HG01891.hp2
HG03130.hp1
others(1): Show 
HG01884.hp2
HG01891.hp2
HG03130.hp1
NA19240.hp1
 intron_variant MODIFIER c.1143-6921C>A
c.1143-6921C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78846347
chr5:78846444 T
T
 C
C
 13 a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
others(10): Show 
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
 13 HG01891.hp1
HG02145.hp1
HG02572.hp1
others(10): Show 
HG01891.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.1143-7018A>G
c.1143-7018A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78846444
chr5:78846453 T
T
 C
C
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-7027A>G
c.1143-7027A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78846453
chr5:78846489 T
T
 C
C
 1 a0007c0012t0032g0180
a0007c0012t0032g0180
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.1143-7063A>G
c.1143-7063A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78846489
chr5:78846506 T
T
 C
C
 2 a0001c0003t0015g0346
a0001c0003t0046g0343
a0001c0003t0015g0346
a0001c0003t0046g0343
 2 HG01069.hp1
HG03491.hp1
HG01069.hp1
HG03491.hp1
 intron_variant MODIFIER c.1143-7080A>G
c.1143-7080A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78846506
chr5:78846604 C
C
 T
T
 1 a0001c0007t0004g0100
a0001c0007t0004g0100
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.1143-7178G>A
c.1143-7178G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78846604
chr5:78846673 T
T
 C
C
 23 a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
others(20): Show 
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0270
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0074g0073
a0001c0005t0075g0112
 23 HG01109.hp2
HG01243.hp2
HG01884.hp1
others(20): Show 
HG01109.hp2
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02109.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02976.hp1
HG03195.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA18906.hp1
NA18906.hp2
NA19240.hp2
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.1143-7247A>G
c.1143-7247A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78846673
chr5:78846735 C
C
 T
T
 3 a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0069g0273
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0069g0273
 3 HG02572.hp1
HG02895.hp2
HG02897.hp1
HG02572.hp1
HG02895.hp2
HG02897.hp1
 intron_variant MODIFIER c.1143-7309G>A
c.1143-7309G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78846735
chr5:78846750 T
T
 C
C
 2 a0001c0003t0002g0338
a0001c0003t0014g0220
a0001c0003t0002g0338
a0001c0003t0014g0220
 2 HG02056.hp2
HG02155.hp2
HG02056.hp2
HG02155.hp2
 intron_variant MODIFIER c.1143-7324A>G
c.1143-7324A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78846750
chr5:78846758 T
T
 C
C
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-7332A>G
c.1143-7332A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78846758
chr5:78846870 G
G
 A
A
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-7444C>T
c.1143-7444C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78846870
chr5:78846906 C
C
 T
T
 151 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
others(148): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0013g0329
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
a0003c0014t0015g0202
a0005c0016t0002g0237
a0007c0012t0032g0180
 151 HG00099.hp1
HG00140.hp2
HG00323.hp2
others(148): Show 
HG00099.hp1
HG00140.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00741.hp2
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03710.hp1
HG03927.hp1
HG04115.hp1
HG04204.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19084.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-7480G>A
c.1143-7480G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78846906
chr5:78846940 T
T
 C
C
 13 a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
others(10): Show 
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
 13 HG01891.hp1
HG02145.hp1
HG02572.hp1
others(10): Show 
HG01891.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.1143-7514A>G
c.1143-7514A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78846940
chr5:78846944 G
G
 C
C
 7 a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
others(4): Show 
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0057g0284
 7 HG00099.hp1
HG00140.hp2
HG01175.hp2
others(4): Show 
HG00099.hp1
HG00140.hp2
HG01175.hp2
HG01978.hp2
HG02698.hp1
HG03710.hp1
NA20805.hp1
 intron_variant MODIFIER c.1143-7518C>G
c.1143-7518C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78846944
chr5:78846957 G
G
 A
A
 1 a0001c0003t0002g0262
a0001c0003t0002g0262
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.1143-7531C>T
c.1143-7531C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78846957
chr5:78847067 T
T
 C
C
 86 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(83): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0003c0014t0015g0202
a0005c0016t0002g0237
a0007c0012t0032g0180
 86 HG00323.hp2
HG00544.hp2
HG00733.hp1
others(83): Show 
HG00323.hp2
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01981.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02145.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03927.hp1
HG04115.hp1
HG04204.hp2
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19043.hp2
NA19063.hp1
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1143-7641A>G
c.1143-7641A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78847067
chr5:78847129 A
A
 C
C
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-7703T>G
c.1143-7703T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78847129
chr5:78847224 C
C
 A
A
 1 a0001c0001t0001g0335
a0001c0001t0001g0335
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.1143-7798G>T
c.1143-7798G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78847224
chr5:78847326 T
T
 A
A
 65 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
others(62): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
 65 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(62): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02523.hp1
HG02698.hp1
HG02896.hp1
HG03225.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-7900A>T
c.1143-7900A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78847326
chr5:78847330 C
C
 T
T
 178 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
others(175): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0013g0329
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0007c0012t0032g0180
 179 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(176): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04204.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19084.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-7904G>A
c.1143-7904G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78847330
chr5:78847335 C
C
 G
G
 1 a0001c0001t0008g0113
a0001c0001t0008g0113
 1 HG01993.hp1
HG01993.hp1
 intron_variant MODIFIER c.1143-7909G>C
c.1143-7909G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78847335
chr5:78847534 T
T
 C
C
 5 a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0001t0031g0324
others(2): Show 
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0001t0031g0324
a0001c0007t0004g0100
a0001c0007t0068g0111
 5 HG02976.hp2
HG03041.hp2
HG03130.hp2
others(2): Show 
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03516.hp2
HG03540.hp2
 intron_variant MODIFIER c.1143-8108A>G
c.1143-8108A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78847534
chr5:78847559 C
C
 T
T
 8 a0001c0003t0006g0267
a0001c0003t0008g0116
a0001c0003t0031g0119
others(5): Show 
a0001c0003t0006g0267
a0001c0003t0008g0116
a0001c0003t0031g0119
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
 8 HG02145.hp1
HG02615.hp1
HG02615.hp2
others(5): Show 
HG02145.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02965.hp2
HG03209.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.1143-8133G>A
c.1143-8133G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78847559
chr5:78847589 T
T
 C
C
 1 a0001c0003t0025g0341
a0001c0003t0025g0341
 1 HG01167.hp2
HG01167.hp2
 intron_variant MODIFIER c.1143-8163A>G
c.1143-8163A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78847589
chr5:78847678 G
G
 A
A
 151 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
others(148): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0013g0329
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
a0003c0014t0015g0202
a0005c0016t0002g0237
a0007c0012t0032g0180
 151 HG00099.hp1
HG00140.hp2
HG00323.hp2
others(148): Show 
HG00099.hp1
HG00140.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00741.hp2
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03710.hp1
HG03927.hp1
HG04115.hp1
HG04204.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19084.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-8252C>T
c.1143-8252C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78847678
chr5:78847912 C
C
 T
T
 17 a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
others(14): Show 
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0018g0057
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0022t0006g0359
a0003c0014t0015g0202
a0005c0016t0002g0237
 17 HG00323.hp2
HG01515.hp2
HG02040.hp2
others(14): Show 
HG00323.hp2
HG01515.hp2
HG02040.hp2
HG02055.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG03139.hp1
HG04115.hp1
NA19043.hp2
NA20129.hp2
 intron_variant MODIFIER c.1143-8486G>A
c.1143-8486G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78847912
chr5:78847921 T
T
 C
C
 52 a0001c0001t0002g0261
a0001c0001t0003g0256
a0001c0001t0003g0257
others(49): Show 
a0001c0001t0002g0261
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0004g0009
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0018g0130
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0007t0004g0100
a0001c0007t0068g0111
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
 52 HG00408.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00408.hp1
HG00544.hp1
HG00558.hp2
HG00741.hp1
HG01243.hp1
HG01515.hp1
HG01517.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG02683.hp2
HG02717.hp1
HG02809.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03209.hp2
HG03516.hp2
HG03540.hp2
HG03834.hp1
HG03942.hp2
HG04184.hp1
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18954.hp1
NA18961.hp2
NA18968.hp1
NA18968.hp2
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19030.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA20752.hp1
 intron_variant MODIFIER c.1143-8495A>G
c.1143-8495A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78847921
chr5:78847934 T
T
 G
G
 65 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
others(62): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
 65 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(62): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02523.hp1
HG02698.hp1
HG02896.hp1
HG03225.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-8508A>C
c.1143-8508A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78847934
chr5:78847938 A
A
 C
C
 1 a0001c0001t0004g0278
a0001c0001t0004g0278
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.1143-8512T>G
c.1143-8512T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78847938
chr5:78847974 G
G
 C
C
 1 a0001c0003t0012g0166
a0001c0003t0012g0166
 1 HG01109.hp2
HG01109.hp2
 intron_variant MODIFIER c.1143-8548C>G
c.1143-8548C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78847974
chr5:78848045 A
A
 G
G
 65 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
others(62): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
 65 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(62): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02523.hp1
HG02698.hp1
HG02896.hp1
HG03225.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-8619T>C
c.1143-8619T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78848045
chr5:78848061 A
A
 C
C
 6 a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0006g0219
others(3): Show 
a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0006g0219
a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0001t0044g0091
 6 HG00741.hp1
HG01243.hp1
HG02717.hp1
others(3): Show 
HG00741.hp1
HG01243.hp1
HG02717.hp1
HG03098.hp2
HG03209.hp2
NA19030.hp1
 intron_variant MODIFIER c.1143-8635T>G
c.1143-8635T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78848061
chr5:78848178 A
A
 G
G
 1 a0002c0002t0005g0340
a0002c0002t0005g0340
 1 NA18969.hp1
NA18969.hp1
 intron_variant MODIFIER c.1143-8752T>C
c.1143-8752T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78848178
chr5:78848224 C
C
 G
G
 37 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(34): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0003c0004t0014g0164
a0006c0020t0003g0127
 37 HG00438.hp2
HG00558.hp1
HG01261.hp2
others(34): Show 
HG00438.hp2
HG00558.hp1
HG01261.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01993.hp2
HG02135.hp1
HG03130.hp1
HG03491.hp2
HG03492.hp2
HG03654.hp2
HG04115.hp2
HG04199.hp2
NA18942.hp1
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18963.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19077.hp2
NA19088.hp2
NA19240.hp1
 intron_variant MODIFIER c.1143-8798G>C
c.1143-8798G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78848224
chr5:78848242 A
A
 G
G
 40 a0001c0001t0003g0256
a0001c0001t0003g0257
a0002c0002t0001g0231
others(37): Show 
a0001c0001t0003g0256
a0001c0001t0003g0257
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
 40 HG00408.hp1
HG00544.hp1
HG00558.hp2
others(37): Show 
HG00408.hp1
HG00544.hp1
HG00558.hp2
HG01515.hp1
HG01517.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG02683.hp2
HG03834.hp1
HG03942.hp2
HG04184.hp1
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18954.hp1
NA18961.hp2
NA18968.hp1
NA18968.hp2
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA20752.hp1
 intron_variant MODIFIER c.1143-8816T>C
c.1143-8816T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78848242
chr5:78848273 A
A
 T
T
 178 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
others(175): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0013g0329
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0007c0012t0032g0180
 179 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(176): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04204.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19084.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-8847T>A
c.1143-8847T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78848273
chr5:78848281 T
T
 C
C
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-8855A>G
c.1143-8855A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78848281
chr5:78848313 C
C
 T
T
 46 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(43): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0002c0002t0026g0176
a0007c0012t0032g0180
 46 HG00544.hp2
HG00733.hp1
HG01069.hp1
others(43): Show 
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01891.hp1
HG01978.hp2
HG01981.hp1
HG02056.hp2
HG02071.hp1
HG02145.hp1
HG02155.hp2
HG02258.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02717.hp2
HG02738.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03041.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03540.hp1
HG03927.hp1
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1143-8887G>A
c.1143-8887G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78848313
chr5:78848328 T
T
 TGTC
TGTC
 45 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(42): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0007c0012t0032g0180
 45 HG00544.hp2
HG00733.hp1
HG01069.hp1
others(42): Show 
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01891.hp1
HG01981.hp1
HG02056.hp2
HG02071.hp1
HG02145.hp1
HG02155.hp2
HG02258.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02717.hp2
HG02738.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03041.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03540.hp1
HG03927.hp1
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1143-8905_1143-890
others(7): Show 
c.1143-8905_1143-8903dupGAC
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78848328
chr5:78848337 G
G
 A
A
 1 a0001c0001t0014g0189
a0001c0001t0014g0189
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.1143-8911C>T
c.1143-8911C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78848337
chr5:78848351 A
A
 AATG
AATG
 267 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(264): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0261
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0018g0130
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 268 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(265): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19062.hp2
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-8928_1143-892
others(7): Show 
c.1143-8928_1143-8926dupCAT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78848351
chr5:78848377 G
G
 C
C
 3 a0001c0003t0002g0354
a0001c0003t0035g0357
a0001c0005t0076g0268
a0001c0003t0002g0354
a0001c0003t0035g0357
a0001c0005t0076g0268
 3 HG02258.hp1
HG02451.hp1
HG02723.hp1
HG02258.hp1
HG02451.hp1
HG02723.hp1
 intron_variant MODIFIER c.1143-8951C>G
c.1143-8951C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78848377
chr5:78848464 T
T
 C
C
 40 a0001c0001t0003g0256
a0001c0001t0003g0257
a0002c0002t0001g0231
others(37): Show 
a0001c0001t0003g0256
a0001c0001t0003g0257
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
 40 HG00408.hp1
HG00544.hp1
HG00558.hp2
others(37): Show 
HG00408.hp1
HG00544.hp1
HG00558.hp2
HG01515.hp1
HG01517.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG02683.hp2
HG03834.hp1
HG03942.hp2
HG04184.hp1
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18954.hp1
NA18961.hp2
NA18968.hp1
NA18968.hp2
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA20752.hp1
 intron_variant MODIFIER c.1143-9038A>G
c.1143-9038A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78848464
chr5:78848473 G
G
 A
A
 1 a0001c0001t0010g0141
a0001c0001t0010g0141
 1 NA19088.hp1
NA19088.hp1
 intron_variant MODIFIER c.1143-9047C>T
c.1143-9047C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78848473
chr5:78848513 C
C
 T
T
 66 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
others(63): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0008g0040
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
 66 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(63): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02523.hp1
HG02698.hp1
HG02896.hp1
HG03225.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-9087G>A
c.1143-9087G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78848513
chr5:78848526 C
C
 T
T
 1 a0003c0004t0004g0149
a0003c0004t0004g0149
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.1143-9100G>A
c.1143-9100G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78848526
chr5:78848561 G
G
 C
C
 5 a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0028g0051
others(2): Show 
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0005t0074g0073
 5 HG02109.hp1
HG03471.hp1
HG03486.hp2
others(2): Show 
HG02109.hp1
HG03471.hp1
HG03486.hp2
HG03579.hp1
NA18906.hp1
 intron_variant MODIFIER c.1143-9135C>G
c.1143-9135C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78848561
chr5:78848580 C
C
 A
A
 17 a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0001t0031g0324
others(14): Show 
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0001t0031g0324
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0018g0057
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0015t0027g0102
a0001c0022t0006g0359
a0005c0016t0002g0237
 17 HG02055.hp2
HG02258.hp1
HG02451.hp1
others(14): Show 
HG02055.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02723.hp1
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03516.hp2
HG03540.hp2
NA19043.hp2
NA20129.hp2
 intron_variant MODIFIER c.1143-9154G>T
c.1143-9154G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78848580
chr5:78848585 T
T
 G
G
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-9159A>C
c.1143-9159A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78848585
chr5:78848599 C
C
 A
A
 2 a0001c0003t0015g0346
a0001c0003t0046g0343
a0001c0003t0015g0346
a0001c0003t0046g0343
 2 HG01069.hp1
HG03491.hp1
HG01069.hp1
HG03491.hp1
 intron_variant MODIFIER c.1143-9173G>T
c.1143-9173G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78848599
chr5:78848609 TTCTAG
TTCTAG
 T
T
 5 a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0001t0031g0324
others(2): Show 
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0001t0031g0324
a0001c0007t0004g0100
a0001c0007t0068g0111
 5 HG02976.hp2
HG03041.hp2
HG03130.hp2
others(2): Show 
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03516.hp2
HG03540.hp2
 intron_variant MODIFIER c.1143-9188_1143-918
others(9): Show 
c.1143-9188_1143-9184delCTAGA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78848609
chr5:78848618 A
A
 C
C
 37 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(34): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0003c0004t0014g0164
a0006c0020t0003g0127
 37 HG00438.hp2
HG00558.hp1
HG01261.hp2
others(34): Show 
HG00438.hp2
HG00558.hp1
HG01261.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01993.hp2
HG02135.hp1
HG03130.hp1
HG03491.hp2
HG03492.hp2
HG03654.hp2
HG04115.hp2
HG04199.hp2
NA18942.hp1
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18963.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19077.hp2
NA19088.hp2
NA19240.hp1
 intron_variant MODIFIER c.1143-9192T>G
c.1143-9192T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78848618
chr5:78848633 A
A
 G
G
 1 a0002c0002t0006g0294
a0002c0002t0006g0294
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-9207T>C
c.1143-9207T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78848633
chr5:78848640 A
A
 C
C
 5 a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0001t0031g0324
others(2): Show 
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0001t0031g0324
a0001c0007t0004g0100
a0001c0007t0068g0111
 5 HG02976.hp2
HG03041.hp2
HG03130.hp2
others(2): Show 
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03516.hp2
HG03540.hp2
 intron_variant MODIFIER c.1143-9214T>G
c.1143-9214T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78848640
chr5:78848641 T
T
 C
C
 5 a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0001t0031g0324
others(2): Show 
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0001t0031g0324
a0001c0007t0004g0100
a0001c0007t0068g0111
 5 HG02976.hp2
HG03041.hp2
HG03130.hp2
others(2): Show 
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03516.hp2
HG03540.hp2
 intron_variant MODIFIER c.1143-9215A>G
c.1143-9215A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78848641
chr5:78848777 C
C
 T
T
 5 a0001c0001t0002g0145
a0001c0009t0016g0271
a0001c0009t0016g0272
others(2): Show 
a0001c0001t0002g0145
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
 5 HG01884.hp2
HG01891.hp2
HG03130.hp1
others(2): Show 
HG01884.hp2
HG01891.hp2
HG03130.hp1
NA18995.hp1
NA19240.hp1
 intron_variant MODIFIER c.1143-9351G>A
c.1143-9351G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78848777
chr5:78848879 C
C
 T
T
 7 a0001c0001t0013g0227
a0001c0009t0016g0271
a0001c0009t0016g0272
others(4): Show 
a0001c0001t0013g0227
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0002c0002t0003g0196
a0002c0002t0003g0197
 7 HG01070.hp2
HG01071.hp1
HG01884.hp2
others(4): Show 
HG01070.hp2
HG01071.hp1
HG01884.hp2
HG01891.hp2
HG03130.hp1
NA18985.hp2
NA19240.hp1
 intron_variant MODIFIER c.1143-9453G>A
c.1143-9453G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78848879
chr5:78848888 A
A
 C
C
 65 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
others(62): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
 65 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(62): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02523.hp1
HG02698.hp1
HG02896.hp1
HG03225.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-9462T>G
c.1143-9462T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78848888
chr5:78848900 C
C
 T
T
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-9474G>A
c.1143-9474G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78848900
chr5:78848914 G
G
 GTTGT
GTTGT
 178 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
others(175): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0013g0329
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0007c0012t0032g0180
 179 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(176): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04204.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19084.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-9492_1143-948
others(8): Show 
c.1143-9492_1143-9489dupACAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78848914
chr5:78848926 C
C
 T
T
 1 a0001c0003t0001g0344
a0001c0003t0001g0344
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.1143-9500G>A
c.1143-9500G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78848926
chr5:78849109 C
C
 T
T
 1 a0001c0001t0001g0084
a0001c0001t0001g0084
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.1143-9683G>A
c.1143-9683G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78849109
chr5:78849180 C
C
 A
A
 86 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(83): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0003c0014t0015g0202
a0005c0016t0002g0237
a0007c0012t0032g0180
 86 HG00323.hp2
HG00544.hp2
HG00733.hp1
others(83): Show 
HG00323.hp2
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01981.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02145.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03927.hp1
HG04115.hp1
HG04204.hp2
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19043.hp2
NA19063.hp1
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1143-9754G>T
c.1143-9754G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78849180
chr5:78849180 C
C
 T
T
 1 a0001c0001t0002g0005
a0001c0001t0002g0005
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.1143-9754G>A
c.1143-9754G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78849180
chr5:78849235 T
T
 C
C
 6 a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0006g0219
others(3): Show 
a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0006g0219
a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0001t0044g0091
 6 HG00741.hp1
HG01243.hp1
HG02717.hp1
others(3): Show 
HG00741.hp1
HG01243.hp1
HG02717.hp1
HG03098.hp2
HG03209.hp2
NA19030.hp1
 intron_variant MODIFIER c.1143-9809A>G
c.1143-9809A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78849235
chr5:78849374 G
G
 C
C
 13 a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
others(10): Show 
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
 13 HG01891.hp1
HG02145.hp1
HG02572.hp1
others(10): Show 
HG01891.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.1143-9948C>G
c.1143-9948C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78849374
chr5:78849497 C
C
 T
T
 1 a0001c0001t0005g0172
a0001c0001t0005g0172
 1 HG00408.hp2
HG00408.hp2
 intron_variant MODIFIER c.1143-10071G>A
c.1143-10071G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78849497
chr5:78849498 G
G
 A
A
 1 a0001c0003t0007g0352
a0001c0003t0007g0352
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.1143-10072C>T
c.1143-10072C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78849498
chr5:78849504 C
C
 T
T
 1 a0001c0003t0012g0232
a0001c0003t0012g0232
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.1143-10078G>A
c.1143-10078G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78849504
chr5:78849535 A
A
 T
T
 3 a0001c0003t0002g0354
a0001c0003t0035g0357
a0001c0005t0076g0268
a0001c0003t0002g0354
a0001c0003t0035g0357
a0001c0005t0076g0268
 3 HG02258.hp1
HG02451.hp1
HG02723.hp1
HG02258.hp1
HG02451.hp1
HG02723.hp1
 intron_variant MODIFIER c.1143-10109T>A
c.1143-10109T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78849535
chr5:78849550 C
C
 T
T
 65 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
others(62): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
 65 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(62): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02523.hp1
HG02698.hp1
HG02896.hp1
HG03225.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-10124G>A
c.1143-10124G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78849550
chr5:78849552 C
C
 T
T
 65 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
others(62): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
 65 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(62): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02523.hp1
HG02698.hp1
HG02896.hp1
HG03225.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-10126G>A
c.1143-10126G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78849552
chr5:78849558 T
T
 C
C
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-10132A>G
c.1143-10132A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78849558
chr5:78849587 A
A
 G
G
 1 a0002c0002t0009g0136
a0002c0002t0009g0136
 1 NA19085.hp2
NA19085.hp2
 intron_variant MODIFIER c.1143-10161T>C
c.1143-10161T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78849587
chr5:78849638 A
A
 T
T
 1 a0002c0002t0064g0285
a0002c0002t0064g0285
 1 HG01192.hp2
HG01192.hp2
 intron_variant MODIFIER c.1143-10212T>A
c.1143-10212T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78849638
chr5:78849685 G
G
 A
A
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-10259C>T
c.1143-10259C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78849685
chr5:78849686 T
T
 C
C
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-10260A>G
c.1143-10260A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78849686
chr5:78849735 C
C
 A
A
 178 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
others(175): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0013g0329
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0007c0012t0032g0180
 179 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(176): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04204.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19084.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-10309G>T
c.1143-10309G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78849735
chr5:78849837 T
T
 C
C
 63 a0001c0001t0002g0317
a0001c0001t0013g0329
a0002c0002t0001g0054
others(60): Show 
a0001c0001t0002g0317
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
 63 HG00099.hp1
HG00140.hp2
HG00423.hp2
others(60): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02698.hp1
HG02896.hp1
HG03225.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-10411A>G
c.1143-10411A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78849837
chr5:78849901 A
A
 G
G
 1 a0002c0002t0006g0204
a0002c0002t0006g0204
 1 HG01517.hp1
HG01517.hp1
 intron_variant MODIFIER c.1143-10475T>C
c.1143-10475T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78849901
chr5:78849913 C
C
 T
T
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-10487G>A
c.1143-10487G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78849913
chr5:78849916 C
C
 T
T
 4 a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
others(1): Show 
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
 4 HG01884.hp2
HG01891.hp2
HG03130.hp1
others(1): Show 
HG01884.hp2
HG01891.hp2
HG03130.hp1
NA19240.hp1
 intron_variant MODIFIER c.1143-10490G>A
c.1143-10490G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78849916
chr5:78850018 T
T
 C
C
 1 a0001c0003t0002g0262
a0001c0003t0002g0262
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.1143-10592A>G
c.1143-10592A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78850018
chr5:78850167 T
T
 C
C
 1 a0003c0004t0007g0331
a0003c0004t0007g0331
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.1143-10741A>G
c.1143-10741A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78850167
chr5:78850216 A
A
 C
C
 1 a0001c0001t0065g0017
a0001c0001t0065g0017
 1 NA19066.hp2
NA19066.hp2
 intron_variant MODIFIER c.1143-10790T>G
c.1143-10790T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78850216
chr5:78850372 C
C
 T
T
 13 a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
others(10): Show 
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
 13 HG01891.hp1
HG02145.hp1
HG02572.hp1
others(10): Show 
HG01891.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.1143-10946G>A
c.1143-10946G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78850372
chr5:78850379 T
T
 C
C
 13 a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
others(10): Show 
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
 13 HG01891.hp1
HG02145.hp1
HG02572.hp1
others(10): Show 
HG01891.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.1143-10953A>G
c.1143-10953A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78850379
chr5:78850383 C
C
 G
G
 87 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(84): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0009g0309
a0003c0014t0015g0202
a0005c0016t0002g0237
a0007c0012t0032g0180
 87 HG00323.hp2
HG00544.hp2
HG00733.hp1
others(84): Show 
HG00323.hp2
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01981.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02145.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03927.hp1
HG04115.hp1
HG04204.hp2
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19003.hp1
NA19010.hp1
NA19043.hp2
NA19063.hp1
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1143-10957G>C
c.1143-10957G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78850383
chr5:78850489 ATGT
ATGT
 A
A
 5 a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0001t0031g0324
others(2): Show 
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0001t0031g0324
a0001c0007t0004g0100
a0001c0007t0068g0111
 5 HG02976.hp2
HG03041.hp2
HG03130.hp2
others(2): Show 
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03516.hp2
HG03540.hp2
 intron_variant MODIFIER c.1143-11066_1143-11
others(9): Show 
c.1143-11066_1143-11064delACA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78850489
chr5:78850595 T
T
 C
C
 1 a0001c0003t0002g0262
a0001c0003t0002g0262
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.1143-11169A>G
c.1143-11169A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78850595
chr5:78850623 C
C
 T
T
 1 a0001c0003t0002g0262
a0001c0003t0002g0262
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.1143-11197G>A
c.1143-11197G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78850623
chr5:78850652 A
A
 T
T
 1 a0001c0001t0001g0245
a0001c0001t0001g0245
 1 NA18960.hp2
NA18960.hp2
 intron_variant MODIFIER c.1143-11226T>A
c.1143-11226T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78850652
chr5:78850724 T
T
 C
C
 1 a0001c0005t0035g0165
a0001c0005t0035g0165
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.1143-11298A>G
c.1143-11298A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78850724
chr5:78850737 G
G
 T
T
 32 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(29): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0021t0003g0358
a0007c0012t0032g0180
 32 HG00544.hp2
HG00733.hp1
HG01069.hp1
others(29): Show 
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01981.hp1
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02258.hp2
HG02572.hp2
HG02647.hp1
HG02738.hp1
HG03041.hp1
HG03195.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1143-11311C>A
c.1143-11311C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78850737
chr5:78850779 T
T
 C
C
 215 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(212): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 216 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(213): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18979.hp2
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19077.hp2
NA19084.hp2
NA19085.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-11353A>G
c.1143-11353A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78850779
chr5:78850788 G
G
 C
C
 2 a0001c0003t0002g0074
a0001c0005t0074g0073
a0001c0003t0002g0074
a0001c0005t0074g0073
 2 HG03471.hp1
HG03579.hp1
HG03471.hp1
HG03579.hp1
 intron_variant MODIFIER c.1143-11362C>G
c.1143-11362C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78850788
chr5:78850800 A
A
 G
G
 1 a0001c0001t0010g0147
a0001c0001t0010g0147
 1 HG01975.hp1
HG01975.hp1
 intron_variant MODIFIER c.1143-11374T>C
c.1143-11374T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78850800
chr5:78850816 G
G
 A
A
 1 a0002c0002t0030g0037
a0002c0002t0030g0037
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.1143-11390C>T
c.1143-11390C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78850816
chr5:78850929 G
G
 A
A
 28 a0001c0001t0003g0214
a0001c0001t0004g0328
a0002c0002t0005g0340
others(25): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0002c0002t0005g0340
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 29 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(26): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA18969.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-11503C>T
c.1143-11503C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78850929
chr5:78850978 C
C
 T
T
 9 a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0002g0270
others(6): Show 
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0002g0270
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0005t0074g0073
 9 HG01243.hp2
HG02109.hp1
HG02896.hp2
others(6): Show 
HG01243.hp2
HG02109.hp1
HG02896.hp2
HG02897.hp2
HG03471.hp1
HG03486.hp2
HG03579.hp1
NA18906.hp1
NA21309.hp2
 intron_variant MODIFIER c.1143-11552G>A
c.1143-11552G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78850978
chr5:78850996 T
T
 C
C
 92 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
others(89): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 93 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(90): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01517.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02523.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02886.hp2
HG02896.hp1
HG03017.hp1
HG03017.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp2
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18960.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19043.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-11570A>G
c.1143-11570A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78850996
chr5:78851012 T
T
 C
C
 1 a0001c0001t0001g0110
a0001c0001t0001g0110
 1 NA19062.hp1
NA19062.hp1
 intron_variant MODIFIER c.1143-11586A>G
c.1143-11586A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78851012
chr5:78851039 T
T
 A
A
 23 a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
others(20): Show 
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0270
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0074g0073
a0001c0005t0075g0112
 23 HG01109.hp2
HG01243.hp2
HG01884.hp1
others(20): Show 
HG01109.hp2
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02109.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02976.hp1
HG03195.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA18906.hp1
NA18906.hp2
NA19240.hp2
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.1143-11613A>T
c.1143-11613A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78851039
chr5:78851162 T
T
 C
C
 5 a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0001t0031g0324
others(2): Show 
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0001t0031g0324
a0001c0007t0004g0100
a0001c0007t0068g0111
 5 HG02976.hp2
HG03041.hp2
HG03130.hp2
others(2): Show 
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03516.hp2
HG03540.hp2
 intron_variant MODIFIER c.1143-11736A>G
c.1143-11736A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78851162
chr5:78851188 T
T
 C
C
 1 a0001c0003t0006g0212
a0001c0003t0006g0212
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.1143-11762A>G
c.1143-11762A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78851188
chr5:78851194 T
T
 G
G
 5 a0001c0003t0006g0212
a0001c0003t0009g0281
a0001c0003t0010g0157
others(2): Show 
a0001c0003t0006g0212
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0041g0155
a0003c0014t0015g0202
 5 HG00323.hp2
HG01515.hp2
HG02040.hp2
others(2): Show 
HG00323.hp2
HG01515.hp2
HG02040.hp2
HG02735.hp2
HG04115.hp1
 intron_variant MODIFIER c.1143-11768A>C
c.1143-11768A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78851194
chr5:78851314 A
A
 T
T
 178 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
others(175): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0013g0329
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0007c0012t0032g0180
 179 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(176): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04204.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19084.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-11888T>A
c.1143-11888T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78851314
chr5:78851372 G
G
 A
A
 1 a0002c0002t0004g0079
a0002c0002t0004g0079
 1 HG02080.hp1
HG02080.hp1
 intron_variant MODIFIER c.1143-11946C>T
c.1143-11946C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78851372
chr5:78851384 G
G
 T
T
 28 a0001c0001t0002g0277
a0001c0001t0003g0214
a0001c0001t0004g0328
others(25): Show 
a0001c0001t0002g0277
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 29 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(26): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03453.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-11958C>A
c.1143-11958C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78851384
chr5:78851473 C
C
 G
G
 5 a0001c0003t0006g0212
a0001c0003t0009g0281
a0001c0003t0010g0157
others(2): Show 
a0001c0003t0006g0212
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0041g0155
a0003c0014t0015g0202
 5 HG00323.hp2
HG01515.hp2
HG02040.hp2
others(2): Show 
HG00323.hp2
HG01515.hp2
HG02040.hp2
HG02735.hp2
HG04115.hp1
 intron_variant MODIFIER c.1143-12047G>C
c.1143-12047G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78851473
chr5:78851503 G
G
 C
C
 23 a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
others(20): Show 
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0270
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0074g0073
a0001c0005t0075g0112
 23 HG01109.hp2
HG01243.hp2
HG01884.hp1
others(20): Show 
HG01109.hp2
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02109.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02976.hp1
HG03195.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA18906.hp1
NA18906.hp2
NA19240.hp2
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.1143-12077C>G
c.1143-12077C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78851503
chr5:78851523 A
A
 G
G
 65 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
others(62): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
 65 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(62): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02523.hp1
HG02698.hp1
HG02896.hp1
HG03225.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-12097T>C
c.1143-12097T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78851523
chr5:78851541 C
C
 T
T
 178 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
others(175): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0013g0329
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0007c0012t0032g0180
 179 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(176): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04204.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19084.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-12115G>A
c.1143-12115G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78851541
chr5:78851569 A
A
 G
G
 1 a0002c0002t0019g0303
a0002c0002t0019g0303
 1 NA18949.hp2
NA18949.hp2
 intron_variant MODIFIER c.1143-12143T>C
c.1143-12143T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78851569
chr5:78851580 T
T
 C
C
 32 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(29): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0021t0003g0358
a0007c0012t0032g0180
 32 HG00544.hp2
HG00733.hp1
HG01069.hp1
others(29): Show 
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01981.hp1
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02258.hp2
HG02572.hp2
HG02647.hp1
HG02738.hp1
HG03041.hp1
HG03195.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1143-12154A>G
c.1143-12154A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78851580
chr5:78851606 G
G
 T
T
 32 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(29): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0021t0003g0358
a0007c0012t0032g0180
 32 HG00544.hp2
HG00733.hp1
HG01069.hp1
others(29): Show 
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01981.hp1
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02258.hp2
HG02572.hp2
HG02647.hp1
HG02738.hp1
HG03041.hp1
HG03195.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1143-12180C>A
c.1143-12180C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78851606
chr5:78851613 T
T
 C
C
 13 a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
others(10): Show 
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
 13 HG01891.hp1
HG02145.hp1
HG02572.hp1
others(10): Show 
HG01891.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.1143-12187A>G
c.1143-12187A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78851613
chr5:78851619 A
A
 G
G
 13 a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
others(10): Show 
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
 13 HG01891.hp1
HG02145.hp1
HG02572.hp1
others(10): Show 
HG01891.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.1143-12193T>C
c.1143-12193T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78851619
chr5:78851673 T
T
 C
C
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-12247A>G
c.1143-12247A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78851673
chr5:78851770 A
A
 G
G
 1 a0001c0001t0007g0115
a0001c0001t0007g0115
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.1143-12344T>C
c.1143-12344T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78851770
chr5:78851773 G
G
 A
A
 1 a0002c0002t0067g0203
a0002c0002t0067g0203
 1 HG01106.hp1
HG01106.hp1
 intron_variant MODIFIER c.1143-12347C>T
c.1143-12347C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78851773
chr5:78851807 T
T
 G
G
 4 a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
others(1): Show 
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
 4 HG01884.hp2
HG01891.hp2
HG03130.hp1
others(1): Show 
HG01884.hp2
HG01891.hp2
HG03130.hp1
NA19240.hp1
 intron_variant MODIFIER c.1143-12381A>C
c.1143-12381A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78851807
chr5:78851822 C
C
 G
G
 1 a0001c0001t0007g0115
a0001c0001t0007g0115
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.1143-12396G>C
c.1143-12396G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78851822
chr5:78851870 C
C
 G
G
 65 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
others(62): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
 65 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(62): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02523.hp1
HG02698.hp1
HG02896.hp1
HG03225.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-12444G>C
c.1143-12444G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78851870
chr5:78851893 T
T
 C
C
 40 a0001c0001t0003g0256
a0001c0001t0003g0257
a0002c0002t0001g0231
others(37): Show 
a0001c0001t0003g0256
a0001c0001t0003g0257
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
 40 HG00408.hp1
HG00544.hp1
HG00558.hp2
others(37): Show 
HG00408.hp1
HG00544.hp1
HG00558.hp2
HG01515.hp1
HG01517.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG02683.hp2
HG03834.hp1
HG03942.hp2
HG04184.hp1
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18954.hp1
NA18961.hp2
NA18968.hp1
NA18968.hp2
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA20752.hp1
 intron_variant MODIFIER c.1143-12467A>G
c.1143-12467A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78851893
chr5:78851927 A
A
 T
T
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-12501T>A
c.1143-12501T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78851927
chr5:78851992 A
A
 G
G
 1 a0002c0002t0026g0176
a0002c0002t0026g0176
 1 HG01978.hp2
HG01978.hp2
 intron_variant MODIFIER c.1143-12566T>C
c.1143-12566T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78851992
chr5:78851994 T
T
 TGGG
TGGG
 5 a0001c0003t0006g0212
a0001c0003t0009g0281
a0001c0003t0010g0157
others(2): Show 
a0001c0003t0006g0212
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0041g0155
a0003c0014t0015g0202
 5 HG00323.hp2
HG01515.hp2
HG02040.hp2
others(2): Show 
HG00323.hp2
HG01515.hp2
HG02040.hp2
HG02735.hp2
HG04115.hp1
 intron_variant MODIFIER c.1143-12571_1143-12
others(9): Show 
c.1143-12571_1143-12569dupCCC
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78851994
chr5:78852099 C
C
 T
T
 5 a0001c0003t0006g0212
a0001c0003t0009g0281
a0001c0003t0010g0157
others(2): Show 
a0001c0003t0006g0212
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0041g0155
a0003c0014t0015g0202
 5 HG00323.hp2
HG01515.hp2
HG02040.hp2
others(2): Show 
HG00323.hp2
HG01515.hp2
HG02040.hp2
HG02735.hp2
HG04115.hp1
 intron_variant MODIFIER c.1143-12673G>A
c.1143-12673G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78852099
chr5:78852153 C
C
 T
T
 7 a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
others(4): Show 
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0057g0284
 7 HG00099.hp1
HG00140.hp2
HG01175.hp2
others(4): Show 
HG00099.hp1
HG00140.hp2
HG01175.hp2
HG01978.hp2
HG02698.hp1
HG03710.hp1
NA20805.hp1
 intron_variant MODIFIER c.1143-12727G>A
c.1143-12727G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78852153
chr5:78852201 A
A
 G
G
 33 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(30): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0003c0004t0014g0164
a0006c0020t0003g0127
 33 HG00438.hp2
HG00558.hp1
HG01261.hp2
others(30): Show 
HG00438.hp2
HG00558.hp1
HG01261.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01993.hp2
HG02135.hp1
HG03491.hp2
HG03492.hp2
HG03654.hp2
HG04115.hp2
HG04199.hp2
NA18942.hp1
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18963.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19077.hp2
NA19088.hp2
 intron_variant MODIFIER c.1143-12775T>C
c.1143-12775T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78852201
chr5:78852288 T
T
 A
A
 65 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
others(62): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
 65 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(62): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02523.hp1
HG02698.hp1
HG02896.hp1
HG03225.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-12862A>T
c.1143-12862A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78852288
chr5:78852396 C
C
 G
G
 65 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
others(62): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
 65 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(62): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02523.hp1
HG02698.hp1
HG02896.hp1
HG03225.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-12970G>C
c.1143-12970G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78852396
chr5:78852416 C
C
 G
G
 3 a0002c0002t0013g0216
a0002c0002t0033g0217
a0002c0002t0064g0285
a0002c0002t0013g0216
a0002c0002t0033g0217
a0002c0002t0064g0285
 3 HG01168.hp1
HG01192.hp2
HG01255.hp1
HG01168.hp1
HG01192.hp2
HG01255.hp1
 intron_variant MODIFIER c.1143-12990G>C
c.1143-12990G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78852416
chr5:78852481 C
C
 T
T
 1 a0001c0001t0014g0199
a0001c0001t0014g0199
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.1143-13055G>A
c.1143-13055G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78852481
chr5:78852540 G
G
 A
A
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-13114C>T
c.1143-13114C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78852540
chr5:78852551 C
C
 T
T
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-13125G>A
c.1143-13125G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78852551
chr5:78852569 C
C
 T
T
 6 a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0006g0219
others(3): Show 
a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0006g0219
a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0001t0044g0091
 6 HG00741.hp1
HG01243.hp1
HG02717.hp1
others(3): Show 
HG00741.hp1
HG01243.hp1
HG02717.hp1
HG03098.hp2
HG03209.hp2
NA19030.hp1
 intron_variant MODIFIER c.1143-13143G>A
c.1143-13143G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78852569
chr5:78852630 T
T
 C
C
 17 a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
others(14): Show 
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0018g0057
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0022t0006g0359
a0003c0014t0015g0202
a0005c0016t0002g0237
 17 HG00323.hp2
HG01515.hp2
HG02040.hp2
others(14): Show 
HG00323.hp2
HG01515.hp2
HG02040.hp2
HG02055.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG03139.hp1
HG04115.hp1
NA19043.hp2
NA20129.hp2
 intron_variant MODIFIER c.1143-13204A>G
c.1143-13204A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78852630
chr5:78852646 G
G
 A
A
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-13220C>T
c.1143-13220C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78852646
chr5:78852728 C
C
 T
T
 1 a0002c0002t0009g0066
a0002c0002t0009g0066
 1 NA19084.hp2
NA19084.hp2
 intron_variant MODIFIER c.1143-13302G>A
c.1143-13302G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78852728
chr5:78852752 G
G
 A
A
 1 a0001c0001t0007g0115
a0001c0001t0007g0115
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.1143-13326C>T
c.1143-13326C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78852752
chr5:78852789 C
C
 T
T
 86 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(83): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0003c0014t0015g0202
a0005c0016t0002g0237
a0007c0012t0032g0180
 86 HG00323.hp2
HG00544.hp2
HG00733.hp1
others(83): Show 
HG00323.hp2
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01981.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02145.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03927.hp1
HG04115.hp1
HG04204.hp2
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19043.hp2
NA19063.hp1
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1143-13363G>A
c.1143-13363G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78852789
chr5:78852803 C
C
 T
T
 2 a0002c0002t0013g0240
a0002c0002t0019g0248
a0002c0002t0013g0240
a0002c0002t0019g0248
 2 HG00673.hp1
NA18989.hp2
HG00673.hp1
NA18989.hp2
 intron_variant MODIFIER c.1143-13377G>A
c.1143-13377G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78852803
chr5:78852886 G
G
 C
C
 13 a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
others(10): Show 
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
 13 HG01891.hp1
HG02145.hp1
HG02572.hp1
others(10): Show 
HG01891.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.1143-13460C>G
c.1143-13460C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78852886
chr5:78852943 T
T
 C
C
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-13517A>G
c.1143-13517A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78852943
chr5:78852955 C
C
 T
T
 13 a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
others(10): Show 
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
 13 HG01891.hp1
HG02145.hp1
HG02572.hp1
others(10): Show 
HG01891.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.1143-13529G>A
c.1143-13529G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78852955
chr5:78853004 T
T
 G
G
 2 a0003c0004t0002g0243
a0003c0004t0011g0007
a0003c0004t0002g0243
a0003c0004t0011g0007
 2 HG00673.hp2
NA18960.hp1
HG00673.hp2
NA18960.hp1
 intron_variant MODIFIER c.1143-13578A>C
c.1143-13578A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78853004
chr5:78853058 G
G
 A
A
 2 a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0043g0090
a0001c0001t0044g0091
 2 HG00741.hp1
NA19030.hp1
HG00741.hp1
NA19030.hp1
 intron_variant MODIFIER c.1143-13632C>T
c.1143-13632C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78853058
chr5:78853089 G
G
 A
A
 2 a0001c0001t0008g0279
a0001c0003t0056g0022
a0001c0001t0008g0279
a0001c0003t0056g0022
 2 HG02280.hp2
NA20805.hp2
HG02280.hp2
NA20805.hp2
 intron_variant MODIFIER c.1143-13663C>T
c.1143-13663C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78853089
chr5:78853157 C
C
 G
G
 1 a0001c0003t0002g0078
a0001c0003t0002g0078
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.1143-13731G>C
c.1143-13731G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78853157
chr5:78853211 T
T
 C
C
 1 a0002c0002t0006g0206
a0002c0002t0006g0206
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.1143-13785A>G
c.1143-13785A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78853211
chr5:78853258 T
T
 G
G
 28 a0001c0001t0001g0144
a0001c0001t0003g0214
a0001c0001t0004g0328
others(25): Show 
a0001c0001t0001g0144
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 29 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(26): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18942.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-13832A>C
c.1143-13832A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78853258
chr5:78853340 G
G
 C
C
 2 a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0003g0214
a0001c0001t0004g0328
 2 HG02698.hp2
HG03017.hp1
HG02698.hp2
HG03017.hp1
 intron_variant MODIFIER c.1143-13914C>G
c.1143-13914C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78853340
chr5:78853433 A
A
 G
G
 178 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
others(175): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0013g0329
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0007c0012t0032g0180
 179 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(176): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04204.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19084.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-14007T>C
c.1143-14007T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78853433
chr5:78853490 T
T
 C
C
 1 a0001c0003t0035g0357
a0001c0003t0035g0357
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1143-14064A>G
c.1143-14064A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78853490
chr5:78853556 T
T
 A
A
 32 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(29): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0021t0003g0358
a0007c0012t0032g0180
 32 HG00544.hp2
HG00733.hp1
HG01069.hp1
others(29): Show 
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01981.hp1
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02258.hp2
HG02572.hp2
HG02647.hp1
HG02738.hp1
HG03041.hp1
HG03195.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1143-14130A>T
c.1143-14130A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78853556
chr5:78853683 A
A
 C
C
 1 a0001c0001t0002g0005
a0001c0001t0002g0005
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.1143-14257T>G
c.1143-14257T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78853683
chr5:78853687 C
C
 T
T
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-14261G>A
c.1143-14261G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78853687
chr5:78853712 C
C
 T
T
 1 a0003c0004t0004g0149
a0003c0004t0004g0149
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.1143-14286G>A
c.1143-14286G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78853712
chr5:78853766 G
G
 A
A
 1 a0002c0002t0001g0054
a0002c0002t0001g0054
 1 HG00609.hp2
HG00609.hp2
 intron_variant MODIFIER c.1143-14340C>T
c.1143-14340C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78853766
chr5:78853791 C
C
 T
T
 2 a0002c0002t0001g0299
a0002c0002t0013g0300
a0002c0002t0001g0299
a0002c0002t0013g0300
 2 NA18949.hp1
NA18954.hp1
NA18949.hp1
NA18954.hp1
 intron_variant MODIFIER c.1143-14365G>A
c.1143-14365G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78853791
chr5:78853792 G
G
 A
A
 2 a0001c0001t0003g0140
a0001c0001t0004g0009
a0001c0001t0003g0140
a0001c0001t0004g0009
 2 HG02129.hp2
HG03209.hp2
HG02129.hp2
HG03209.hp2
 intron_variant MODIFIER c.1143-14366C>T
c.1143-14366C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78853792
chr5:78853827 A
A
 G
G
 32 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(29): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0021t0003g0358
a0007c0012t0032g0180
 32 HG00544.hp2
HG00733.hp1
HG01069.hp1
others(29): Show 
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01981.hp1
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02258.hp2
HG02572.hp2
HG02647.hp1
HG02738.hp1
HG03041.hp1
HG03195.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1143-14401T>C
c.1143-14401T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78853827
chr5:78853994 C
C
 T
T
 86 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(83): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0003c0014t0015g0202
a0005c0016t0002g0237
a0007c0012t0032g0180
 86 HG00323.hp2
HG00544.hp2
HG00733.hp1
others(83): Show 
HG00323.hp2
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01981.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02145.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03927.hp1
HG04115.hp1
HG04204.hp2
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19043.hp2
NA19063.hp1
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1143-14568G>A
c.1143-14568G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78853994
chr5:78854044 T
T
 C
C
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-14618A>G
c.1143-14618A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78854044
chr5:78854046 C
C
 T
T
 1 a0001c0007t0068g0111
a0001c0007t0068g0111
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1143-14620G>A
c.1143-14620G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78854046
chr5:78854050 T
T
 C
C
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-14624A>G
c.1143-14624A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78854050
chr5:78854055 C
C
 T
T
 1 a0003c0004t0007g0152
a0003c0004t0007g0152
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1143-14629G>A
c.1143-14629G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78854055
chr5:78854107 T
T
 C
C
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-14681A>G
c.1143-14681A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78854107
chr5:78854140 C
C
 T
T
 32 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(29): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0021t0003g0358
a0007c0012t0032g0180
 32 HG00544.hp2
HG00733.hp1
HG01069.hp1
others(29): Show 
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01981.hp1
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02258.hp2
HG02572.hp2
HG02647.hp1
HG02738.hp1
HG03041.hp1
HG03195.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1143-14714G>A
c.1143-14714G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78854140
chr5:78854155 T
T
 C
C
 1 a0002c0002t0002g0312
a0002c0002t0002g0312
 1 NA18612.hp2
NA18612.hp2
 intron_variant MODIFIER c.1143-14729A>G
c.1143-14729A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78854155
chr5:78854158 C
C
 T
T
 1 a0001c0003t0002g0262
a0001c0003t0002g0262
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.1143-14732G>A
c.1143-14732G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78854158
chr5:78854215 C
C
 T
T
 1 a0002c0002t0008g0311
a0002c0002t0008g0311
 1 NA18986.hp2
NA18986.hp2
 intron_variant MODIFIER c.1143-14789G>A
c.1143-14789G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78854215
chr5:78854324 G
G
 A
A
 7 a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
others(4): Show 
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0057g0284
 7 HG00099.hp1
HG00140.hp2
HG01175.hp2
others(4): Show 
HG00099.hp1
HG00140.hp2
HG01175.hp2
HG01978.hp2
HG02698.hp1
HG03710.hp1
NA20805.hp1
 intron_variant MODIFIER c.1143-14898C>T
c.1143-14898C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78854324
chr5:78854324 G
G
 T
T
 258 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(255): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0261
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0018g0130
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 259 HG00099.hp2
HG00280.hp2
HG00323.hp2
others(256): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18993.hp2
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19062.hp2
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-14898C>A
c.1143-14898C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78854324
chr5:78854380 T
T
 C
C
 1 a0001c0001t0007g0115
a0001c0001t0007g0115
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.1143-14954A>G
c.1143-14954A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78854380
chr5:78854405 T
T
 C
C
 3 a0001c0001t0001g0031
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0031
a0001c0001t0001g0168
a0001c0001t0001g0169
 3 NA18952.hp2
NA18983.hp1
NA19077.hp1
NA18952.hp2
NA18983.hp1
NA19077.hp1
 intron_variant MODIFIER c.1143-14979A>G
c.1143-14979A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78854405
chr5:78854428 C
C
 G
G
 1 a0003c0004t0072g0323
a0003c0004t0072g0323
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.1143-15002G>C
c.1143-15002G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78854428
chr5:78854629 TC
TC
 T
T
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-15204delG
c.1143-15204delG
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78854629
chr5:78854631 T
T
 A
A
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-15205A>T
c.1143-15205A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78854631
chr5:78854632 C
C
 G
G
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-15206G>C
c.1143-15206G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78854632
chr5:78854634 T
T
 A
A
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-15208A>T
c.1143-15208A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78854634
chr5:78854635 G
G
 T
T
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-15209C>A
c.1143-15209C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78854635
chr5:78854684 G
G
 T
T
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-15258C>A
c.1143-15258C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78854684
chr5:78854889 G
G
 A
A
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-15463C>T
c.1143-15463C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78854889
chr5:78854940 T
T
 C
C
 1 a0002c0002t0011g0234
a0002c0002t0011g0234
 1 NA18612.hp1
NA18612.hp1
 intron_variant MODIFIER c.1143-15514A>G
c.1143-15514A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78854940
chr5:78855066 C
C
 T
T
 1 a0001c0003t0002g0269
a0001c0003t0002g0269
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.1143-15640G>A
c.1143-15640G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78855066
chr5:78855068 G
G
 C
C
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-15642C>G
c.1143-15642C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78855068
chr5:78855238 C
C
 T
T
 86 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(83): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0003c0014t0015g0202
a0005c0016t0002g0237
a0007c0012t0032g0180
 86 HG00323.hp2
HG00544.hp2
HG00733.hp1
others(83): Show 
HG00323.hp2
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01981.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02145.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03927.hp1
HG04115.hp1
HG04204.hp2
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19043.hp2
NA19063.hp1
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1143-15812G>A
c.1143-15812G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78855238
chr5:78855302 G
G
 A
A
 2 a0001c0001t0001g0263
a0001c0001t0010g0264
a0001c0001t0001g0263
a0001c0001t0010g0264
 2 HG03491.hp2
HG03492.hp2
HG03491.hp2
HG03492.hp2
 intron_variant MODIFIER c.1143-15876C>T
c.1143-15876C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78855302
chr5:78855449 A
A
 C
C
 12 a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
others(9): Show 
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0018g0057
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0022t0006g0359
a0005c0016t0002g0237
 12 HG02055.hp2
HG02258.hp1
HG02451.hp1
others(9): Show 
HG02055.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02723.hp1
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG03139.hp1
NA19043.hp2
NA20129.hp2
 intron_variant MODIFIER c.1143-16023T>G
c.1143-16023T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78855449
chr5:78855455 G
G
 A
A
 178 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
others(175): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0013g0329
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0007c0012t0032g0180
 179 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(176): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04204.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19084.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-16029C>T
c.1143-16029C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78855455
chr5:78855489 G
G
 A
A
 5 a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0001t0031g0324
others(2): Show 
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0001t0031g0324
a0001c0007t0004g0100
a0001c0007t0068g0111
 5 HG02976.hp2
HG03041.hp2
HG03130.hp2
others(2): Show 
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03516.hp2
HG03540.hp2
 intron_variant MODIFIER c.1143-16063C>T
c.1143-16063C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78855489
chr5:78855559 C
C
 A
A
 38 a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
others(35): Show 
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
 38 HG00408.hp1
HG00544.hp1
HG00558.hp2
others(35): Show 
HG00408.hp1
HG00544.hp1
HG00558.hp2
HG01515.hp1
HG01517.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG02683.hp2
HG03834.hp1
HG03942.hp2
HG04184.hp1
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18954.hp1
NA18961.hp2
NA18968.hp1
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA20752.hp1
 intron_variant MODIFIER c.1143-16133G>T
c.1143-16133G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78855559
chr5:78855571 A
A
 G
G
 1 a0001c0001t0004g0278
a0001c0001t0004g0278
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.1143-16145T>C
c.1143-16145T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78855571
chr5:78855572 C
C
 T
T
 1 a0004c0006t0004g0188
a0004c0006t0004g0188
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.1143-16146G>A
c.1143-16146G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78855572
chr5:78855590 A
A
 G
G
 13 a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
others(10): Show 
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
 13 HG01891.hp1
HG02145.hp1
HG02572.hp1
others(10): Show 
HG01891.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.1143-16164T>C
c.1143-16164T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78855590
chr5:78855641 T
T
 C
C
 23 a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
others(20): Show 
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0270
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0074g0073
a0001c0005t0075g0112
 23 HG01109.hp2
HG01243.hp2
HG01884.hp1
others(20): Show 
HG01109.hp2
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02109.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02976.hp1
HG03195.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA18906.hp1
NA18906.hp2
NA19240.hp2
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.1143-16215A>G
c.1143-16215A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78855641
chr5:78855670 C
C
 T
T
 1 a0001c0001t0008g0286
a0001c0001t0008g0286
 1 HG02056.hp1
HG02056.hp1
 intron_variant MODIFIER c.1143-16244G>A
c.1143-16244G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78855670
chr5:78855713 T
T
 C
C
 178 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
others(175): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0013g0329
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0007c0012t0032g0180
 179 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(176): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04204.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19084.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-16287A>G
c.1143-16287A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78855713
chr5:78855774 G
G
 A
A
 1 a0001c0001t0006g0356
a0001c0001t0006g0356
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1143-16348C>T
c.1143-16348C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78855774
chr5:78855777 G
G
 A
A
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-16351C>T
c.1143-16351C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78855777
chr5:78855794 T
T
 A
A
 17 a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
others(14): Show 
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0018g0057
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0022t0006g0359
a0003c0014t0015g0202
a0005c0016t0002g0237
 17 HG00323.hp2
HG01515.hp2
HG02040.hp2
others(14): Show 
HG00323.hp2
HG01515.hp2
HG02040.hp2
HG02055.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG03139.hp1
HG04115.hp1
NA19043.hp2
NA20129.hp2
 intron_variant MODIFIER c.1143-16368A>T
c.1143-16368A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78855794
chr5:78855817 T
T
 C
C
 65 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
others(62): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
 65 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(62): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02523.hp1
HG02698.hp1
HG02896.hp1
HG03225.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-16391A>G
c.1143-16391A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78855817
chr5:78855890 C
C
 T
T
 86 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(83): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0003c0014t0015g0202
a0005c0016t0002g0237
a0007c0012t0032g0180
 86 HG00323.hp2
HG00544.hp2
HG00733.hp1
others(83): Show 
HG00323.hp2
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01981.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02145.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03927.hp1
HG04115.hp1
HG04204.hp2
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19043.hp2
NA19063.hp1
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1143-16464G>A
c.1143-16464G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78855890
chr5:78855950 A
A
 G
G
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-16524T>C
c.1143-16524T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78855950
chr5:78855986 G
G
 A
A
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-16560C>T
c.1143-16560C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78855986
chr5:78856081 A
A
 G
G
 13 a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
others(10): Show 
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
 13 HG01891.hp1
HG02145.hp1
HG02572.hp1
others(10): Show 
HG01891.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.1143-16655T>C
c.1143-16655T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78856081
chr5:78856130 G
G
 A
A
 92 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
others(89): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 93 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(90): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01517.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02523.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02886.hp2
HG02896.hp1
HG03017.hp1
HG03017.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp2
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18960.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19043.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-16704C>T
c.1143-16704C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78856130
chr5:78856136 T
T
 C
C
 1 a0001c0001t0047g0043
a0001c0001t0047g0043
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.1143-16710A>G
c.1143-16710A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78856136
chr5:78856166 A
A
 G
G
 1 a0002c0002t0025g0213
a0002c0002t0025g0213
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.1143-16740T>C
c.1143-16740T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78856166
chr5:78856228 A
A
 T
T
 1 a0001c0001t0005g0172
a0001c0001t0005g0172
 1 HG00408.hp2
HG00408.hp2
 intron_variant MODIFIER c.1143-16802T>A
c.1143-16802T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78856228
chr5:78856275 A
A
 C
C
 4 a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
others(1): Show 
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
 4 HG01884.hp2
HG01891.hp2
HG03130.hp1
others(1): Show 
HG01884.hp2
HG01891.hp2
HG03130.hp1
NA19240.hp1
 intron_variant MODIFIER c.1143-16849T>G
c.1143-16849T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78856275
chr5:78856369 T
T
 C
C
 178 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
others(175): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0013g0329
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0007c0012t0032g0180
 179 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(176): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04204.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19084.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-16943A>G
c.1143-16943A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78856369
chr5:78856573 T
T
 C
C
 37 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(34): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0003c0004t0014g0164
a0006c0020t0003g0127
 37 HG00438.hp2
HG00558.hp1
HG01261.hp2
others(34): Show 
HG00438.hp2
HG00558.hp1
HG01261.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01993.hp2
HG02135.hp1
HG03130.hp1
HG03491.hp2
HG03492.hp2
HG03654.hp2
HG04115.hp2
HG04199.hp2
NA18942.hp1
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18963.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19077.hp2
NA19088.hp2
NA19240.hp1
 intron_variant MODIFIER c.1143-17147A>G
c.1143-17147A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78856573
chr5:78856637 C
C
 G
G
 37 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(34): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0003c0004t0014g0164
a0006c0020t0003g0127
 37 HG00438.hp2
HG00558.hp1
HG01261.hp2
others(34): Show 
HG00438.hp2
HG00558.hp1
HG01261.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01993.hp2
HG02135.hp1
HG03130.hp1
HG03491.hp2
HG03492.hp2
HG03654.hp2
HG04115.hp2
HG04199.hp2
NA18942.hp1
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18963.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19077.hp2
NA19088.hp2
NA19240.hp1
 intron_variant MODIFIER c.1143-17211G>C
c.1143-17211G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78856637
chr5:78856752 T
T
 C
C
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-17326A>G
c.1143-17326A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78856752
chr5:78856825 C
C
 T
T
 1 a0001c0001t0005g0172
a0001c0001t0005g0172
 1 HG00408.hp2
HG00408.hp2
 intron_variant MODIFIER c.1143-17399G>A
c.1143-17399G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78856825
chr5:78856871 T
T
 A
A
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-17445A>T
c.1143-17445A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78856871
chr5:78856894 G
G
 A
A
 1 a0002c0002t0071g0280
a0002c0002t0071g0280
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.1143-17468C>T
c.1143-17468C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78856894
chr5:78857113 C
C
 T
T
 65 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
others(62): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
 65 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(62): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02523.hp1
HG02698.hp1
HG02896.hp1
HG03225.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-17687G>A
c.1143-17687G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78857113
chr5:78857300 T
T
 C
C
 1 a0001c0003t0009g0281
a0001c0003t0009g0281
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.1143-17874A>G
c.1143-17874A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78857300
chr5:78857382 T
T
 C
C
 40 a0001c0001t0003g0256
a0001c0001t0003g0257
a0002c0002t0001g0231
others(37): Show 
a0001c0001t0003g0256
a0001c0001t0003g0257
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
 40 HG00408.hp1
HG00544.hp1
HG00558.hp2
others(37): Show 
HG00408.hp1
HG00544.hp1
HG00558.hp2
HG01515.hp1
HG01517.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG02683.hp2
HG03834.hp1
HG03942.hp2
HG04184.hp1
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18954.hp1
NA18961.hp2
NA18968.hp1
NA18968.hp2
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA20752.hp1
 intron_variant MODIFIER c.1143-17956A>G
c.1143-17956A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78857382
chr5:78857423 T
T
 A
A
 215 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(212): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 216 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(213): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18979.hp2
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19077.hp2
NA19084.hp2
NA19085.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-17997A>T
c.1143-17997A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78857423
chr5:78857459 A
A
 T
T
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-18033T>A
c.1143-18033T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78857459
chr5:78857487 G
G
 A
A
 1 a0001c0005t0017g0255
a0001c0005t0017g0255
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.1143-18061C>T
c.1143-18061C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78857487
chr5:78857495 T
T
 A
A
 5 a0001c0003t0002g0101
a0001c0003t0012g0232
a0001c0003t0061g0252
others(2): Show 
a0001c0003t0002g0101
a0001c0003t0012g0232
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
 5 HG01884.hp1
HG02622.hp1
HG02895.hp1
others(2): Show 
HG01884.hp1
HG02622.hp1
HG02895.hp1
HG03516.hp1
NA20300.hp1
 intron_variant MODIFIER c.1143-18069A>T
c.1143-18069A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78857495
chr5:78857502 C
C
 T
T
 97 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
others(94): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0013g0329
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
a0007c0012t0032g0180
 97 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(94): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00741.hp2
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02056.hp2
HG02071.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02155.hp2
HG02258.hp2
HG02293.hp2
HG02523.hp1
HG02572.hp2
HG02647.hp1
HG02698.hp1
HG02738.hp1
HG02896.hp1
HG03041.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03710.hp1
HG03927.hp1
HG04204.hp2
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19084.hp2
NA19085.hp1
NA20129.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-18076G>A
c.1143-18076G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78857502
chr5:78857548 G
G
 A
A
 65 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
others(62): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
 65 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(62): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02523.hp1
HG02698.hp1
HG02896.hp1
HG03225.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-18122C>T
c.1143-18122C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78857548
chr5:78857573 A
A
 T
T
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-18147T>A
c.1143-18147T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78857573
chr5:78857575 T
T
 C
C
 32 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(29): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0021t0003g0358
a0007c0012t0032g0180
 32 HG00544.hp2
HG00733.hp1
HG01069.hp1
others(29): Show 
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01981.hp1
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02258.hp2
HG02572.hp2
HG02647.hp1
HG02738.hp1
HG03041.hp1
HG03195.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1143-18149A>G
c.1143-18149A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78857575
chr5:78857676 G
G
 A
A
 6 a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
others(3): Show 
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
 6 HG00323.hp1
HG01258.hp1
HG01358.hp1
others(3): Show 
HG00323.hp1
HG01258.hp1
HG01358.hp1
HG01496.hp2
HG02602.hp2
HG02735.hp1
 intron_variant MODIFIER c.1143-18250C>T
c.1143-18250C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78857676
chr5:78857700 C
C
 T
T
 1 a0002c0002t0018g0308
a0002c0002t0018g0308
 1 NA18961.hp2
NA18961.hp2
 intron_variant MODIFIER c.1143-18274G>A
c.1143-18274G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78857700
chr5:78857864 G
G
 T
T
 86 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(83): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0003c0014t0015g0202
a0005c0016t0002g0237
a0007c0012t0032g0180
 86 HG00323.hp2
HG00544.hp2
HG00733.hp1
others(83): Show 
HG00323.hp2
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01981.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02145.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03927.hp1
HG04115.hp1
HG04204.hp2
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19043.hp2
NA19063.hp1
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1143-18438C>A
c.1143-18438C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78857864
chr5:78858134 G
G
 A
A
 178 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
others(175): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0013g0329
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0007c0012t0032g0180
 179 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(176): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04204.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19084.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-18708C>T
c.1143-18708C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78858134
chr5:78858145 G
G
 A
A
 1 a0001c0001t0002g0005
a0001c0001t0002g0005
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.1143-18719C>T
c.1143-18719C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78858145
chr5:78858165 T
T
 C
C
 1 a0001c0001t0002g0143
a0001c0001t0002g0143
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.1143-18739A>G
c.1143-18739A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78858165
chr5:78858192 A
A
 G
G
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01106.hp2
HG01106.hp2
 intron_variant MODIFIER c.1143-18766T>C
c.1143-18766T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78858192
chr5:78858308 T
T
 A
A
 1 a0002c0002t0013g0300
a0002c0002t0013g0300
 1 NA18954.hp1
NA18954.hp1
 intron_variant MODIFIER c.1143-18882A>T
c.1143-18882A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78858308
chr5:78858544 C
C
 A
A
 1 a0001c0001t0007g0115
a0001c0001t0007g0115
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.1143-19118G>T
c.1143-19118G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78858544
chr5:78858554 T
T
 A
A
 1 a0001c0001t0003g0327
a0001c0001t0003g0327
 1 HG00621.hp2
HG00621.hp2
 intron_variant MODIFIER c.1143-19128A>T
c.1143-19128A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78858554
chr5:78858554 T
T
 C
C
 45 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(42): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0007c0012t0032g0180
 45 HG00544.hp2
HG00733.hp1
HG01069.hp1
others(42): Show 
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01891.hp1
HG01981.hp1
HG02056.hp2
HG02071.hp1
HG02145.hp1
HG02155.hp2
HG02258.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02717.hp2
HG02738.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03041.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03540.hp1
HG03927.hp1
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1143-19128A>G
c.1143-19128A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78858554
chr5:78858588 A
A
 G
G
 1 a0001c0005t0017g0353
a0001c0005t0017g0353
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.1143-19162T>C
c.1143-19162T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78858588
chr5:78858750 C
C
 G
G
 1 a0001c0001t0002g0261
a0001c0001t0002g0261
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.1143-19324G>C
c.1143-19324G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78858750
chr5:78858773 C
C
 T
T
 37 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(34): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0003c0004t0014g0164
a0006c0020t0003g0127
 37 HG00438.hp2
HG00558.hp1
HG01261.hp2
others(34): Show 
HG00438.hp2
HG00558.hp1
HG01261.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01993.hp2
HG02135.hp1
HG03130.hp1
HG03491.hp2
HG03492.hp2
HG03654.hp2
HG04115.hp2
HG04199.hp2
NA18942.hp1
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18963.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19077.hp2
NA19088.hp2
NA19240.hp1
 intron_variant MODIFIER c.1143-19347G>A
c.1143-19347G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78858773
chr5:78858812 A
A
 C
C
 92 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
others(89): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 93 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(90): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01517.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02523.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02886.hp2
HG02896.hp1
HG03017.hp1
HG03017.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp2
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18960.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19043.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-19386T>G
c.1143-19386T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78858812
chr5:78858821 C
C
 T
T
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-19395G>A
c.1143-19395G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78858821
chr5:78858900 A
A
 G
G
 1 a0003c0004t0003g0292
a0003c0004t0003g0292
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.1143-19474T>C
c.1143-19474T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78858900
chr5:78858999 T
T
 C
C
 1 a0001c0001t0020g0146
a0001c0001t0020g0146
 1 NA18961.hp1
NA18961.hp1
 intron_variant MODIFIER c.1143-19573A>G
c.1143-19573A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78858999
chr5:78859034 A
A
 G
G
 268 a0001c0001t0001g0087
a0001c0001t0001g0135
a0001c0001t0001g0245
others(265): Show 
a0001c0001t0001g0087
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0261
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0018g0130
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 269 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(266): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19062.hp2
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-19608T>C
c.1143-19608T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78859034
chr5:78859086 C
C
 T
T
 8 a0002c0002t0002g0186
a0002c0002t0006g0126
a0002c0002t0006g0204
others(5): Show 
a0002c0002t0002g0186
a0002c0002t0006g0126
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0294
a0002c0002t0063g0198
a0002c0002t0067g0203
a0002c0002t0071g0280
 8 HG00642.hp2
HG00733.hp2
HG01106.hp1
others(5): Show 
HG00642.hp2
HG00733.hp2
HG01106.hp1
HG01109.hp1
HG01517.hp1
HG02109.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-19660G>A
c.1143-19660G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78859086
chr5:78859110 G
G
 A
A
 32 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(29): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0021t0003g0358
a0007c0012t0032g0180
 32 HG00544.hp2
HG00733.hp1
HG01069.hp1
others(29): Show 
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01981.hp1
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02258.hp2
HG02572.hp2
HG02647.hp1
HG02738.hp1
HG03041.hp1
HG03195.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1143-19684C>T
c.1143-19684C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78859110
chr5:78859162 T
T
 C
C
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-19736A>G
c.1143-19736A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78859162
chr5:78859218 G
G
 A
A
 1 a0002c0002t0005g0042
a0002c0002t0005g0042
 1 HG01257.hp1
HG01257.hp1
 intron_variant MODIFIER c.1143-19792C>T
c.1143-19792C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78859218
chr5:78859237 G
G
 T
T
 1 a0002c0002t0003g0336
a0002c0002t0003g0336
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.1143-19811C>A
c.1143-19811C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78859237
chr5:78859243 T
T
 C
C
 1 a0001c0003t0002g0262
a0001c0003t0002g0262
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.1143-19817A>G
c.1143-19817A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78859243
chr5:78859329 T
T
 C
C
 86 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(83): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0003c0014t0015g0202
a0005c0016t0002g0237
a0007c0012t0032g0180
 86 HG00323.hp2
HG00544.hp2
HG00733.hp1
others(83): Show 
HG00323.hp2
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01981.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02145.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03927.hp1
HG04115.hp1
HG04204.hp2
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19043.hp2
NA19063.hp1
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1143-19903A>G
c.1143-19903A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78859329
chr5:78859342 G
G
 GA
GA
 37 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(34): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0003c0004t0014g0164
a0006c0020t0003g0127
 37 HG00438.hp2
HG00558.hp1
HG01261.hp2
others(34): Show 
HG00438.hp2
HG00558.hp1
HG01261.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01993.hp2
HG02135.hp1
HG03130.hp1
HG03491.hp2
HG03492.hp2
HG03654.hp2
HG04115.hp2
HG04199.hp2
NA18942.hp1
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18963.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19077.hp2
NA19088.hp2
NA19240.hp1
 intron_variant MODIFIER c.1143-19917dupT
c.1143-19917dupT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78859342
chr5:78859397 C
C
 A
A
 1 a0001c0003t0002g0262
a0001c0003t0002g0262
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.1143-19971G>T
c.1143-19971G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78859397
chr5:78859399 T
T
 C
C
 1 a0002c0002t0001g0184
a0002c0002t0001g0184
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.1143-19973A>G
c.1143-19973A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78859399
chr5:78859580 A
A
 G
G
 86 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(83): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0003c0014t0015g0202
a0005c0016t0002g0237
a0007c0012t0032g0180
 86 HG00323.hp2
HG00544.hp2
HG00733.hp1
others(83): Show 
HG00323.hp2
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01981.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02145.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03927.hp1
HG04115.hp1
HG04204.hp2
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19043.hp2
NA19063.hp1
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1143-20154T>C
c.1143-20154T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78859580
chr5:78859580 A
A
 T
T
 1 a0001c0019t0022g0233
a0001c0019t0022g0233
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.1143-20154T>A
c.1143-20154T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78859580
chr5:78859583 C
C
 T
T
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-20157G>A
c.1143-20157G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78859583
chr5:78859654 T
T
 C
C
 24 a0001c0001t0002g0039
a0001c0001t0005g0038
a0001c0001t0013g0329
others(21): Show 
a0001c0001t0002g0039
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0069
a0002c0002t0001g0287
a0002c0002t0003g0068
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0240
a0002c0002t0019g0248
a0002c0002t0030g0037
 24 HG00423.hp1
HG00438.hp1
HG00621.hp1
others(21): Show 
HG00423.hp1
HG00438.hp1
HG00621.hp1
HG00673.hp1
HG01257.hp1
HG02132.hp2
HG02523.hp1
NA18612.hp1
NA18941.hp2
NA18944.hp1
NA18948.hp1
NA18951.hp2
NA18953.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18989.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19084.hp2
 intron_variant MODIFIER c.1143-20228A>G
c.1143-20228A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78859654
chr5:78859685 G
G
 A
A
 1 a0002c0002t0005g0042
a0002c0002t0005g0042
 1 HG01257.hp1
HG01257.hp1
 intron_variant MODIFIER c.1143-20259C>T
c.1143-20259C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78859685
chr5:78859687 A
A
 C
C
 1 a0005c0016t0002g0237
a0005c0016t0002g0237
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1143-20261T>G
c.1143-20261T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78859687
chr5:78859722 A
A
 C
C
 1 a0001c0001t0003g0307
a0001c0001t0003g0307
 1 NA19001.hp2
NA19001.hp2
 intron_variant MODIFIER c.1143-20296T>G
c.1143-20296T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78859722
chr5:78859748 A
A
 G
G
 1 a0001c0003t0058g0045
a0001c0003t0058g0045
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.1143-20322T>C
c.1143-20322T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78859748
chr5:78859805 C
C
 G
G
 5 a0002c0002t0001g0299
a0002c0002t0002g0312
a0002c0002t0008g0311
others(2): Show 
a0002c0002t0001g0299
a0002c0002t0002g0312
a0002c0002t0008g0311
a0002c0002t0009g0309
a0002c0002t0013g0300
 5 NA18612.hp2
NA18949.hp1
NA18954.hp1
others(2): Show 
NA18612.hp2
NA18949.hp1
NA18954.hp1
NA18986.hp2
NA19003.hp1
 intron_variant MODIFIER c.1143-20379G>C
c.1143-20379G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78859805
chr5:78859814 T
T
 C
C
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-20388A>G
c.1143-20388A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78859814
chr5:78859930 C
C
 T
T
 1 a0002c0002t0001g0183
a0002c0002t0001g0183
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.1143-20504G>A
c.1143-20504G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78859930
chr5:78859963 A
A
 C
C
 1 a0002c0002t0066g0355
a0002c0002t0066g0355
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.1143-20537T>G
c.1143-20537T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78859963
chr5:78860048 T
T
 A
A
 1 a0002c0002t0007g0081
a0002c0002t0007g0081
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.1143-20622A>T
c.1143-20622A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78860048
chr5:78860140 C
C
 T
T
 32 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(29): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0021t0003g0358
a0007c0012t0032g0180
 32 HG00544.hp2
HG00733.hp1
HG01069.hp1
others(29): Show 
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01981.hp1
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02258.hp2
HG02572.hp2
HG02647.hp1
HG02738.hp1
HG03041.hp1
HG03195.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1143-20714G>A
c.1143-20714G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78860140
chr5:78860320 A
A
 G
G
 37 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(34): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0003c0004t0014g0164
a0006c0020t0003g0127
 37 HG00438.hp2
HG00558.hp1
HG01261.hp2
others(34): Show 
HG00438.hp2
HG00558.hp1
HG01261.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01993.hp2
HG02135.hp1
HG03130.hp1
HG03491.hp2
HG03492.hp2
HG03654.hp2
HG04115.hp2
HG04199.hp2
NA18942.hp1
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18963.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19077.hp2
NA19088.hp2
NA19240.hp1
 intron_variant MODIFIER c.1143-20894T>C
c.1143-20894T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78860320
chr5:78860341 C
C
 T
T
 1 a0001c0001t0002g0005
a0001c0001t0002g0005
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.1143-20915G>A
c.1143-20915G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78860341
chr5:78860506 GA
GA
 G
G
 32 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(29): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0021t0003g0358
a0007c0012t0032g0180
 32 HG00544.hp2
HG00733.hp1
HG01069.hp1
others(29): Show 
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01981.hp1
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02258.hp2
HG02572.hp2
HG02647.hp1
HG02738.hp1
HG03041.hp1
HG03195.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1143-21081delT
c.1143-21081delT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78860506
chr5:78860567 G
G
 A
A
 178 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
others(175): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0013g0329
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0007c0012t0032g0180
 179 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(176): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04204.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19084.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-21141C>T
c.1143-21141C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78860567
chr5:78860589 C
C
 T
T
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-21163G>A
c.1143-21163G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78860589
chr5:78860680 C
C
 T
T
 1 a0007c0012t0032g0180
a0007c0012t0032g0180
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.1143-21254G>A
c.1143-21254G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78860680
chr5:78860720 A
A
 G
G
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-21294T>C
c.1143-21294T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78860720
chr5:78860758 C
C
 A
A
 68 a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0003t0002g0074
others(65): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0028g0051
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0022t0006g0359
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
 69 HG00099.hp2
HG00280.hp2
HG00323.hp2
others(66): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01109.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01515.hp2
HG01884.hp1
HG01952.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp2
HG02258.hp1
HG02280.hp1
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03139.hp1
HG03195.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03579.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
HG04115.hp1
NA18906.hp1
NA18906.hp2
NA18960.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.1143-21332G>T
c.1143-21332G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78860758
chr5:78860758 C
C
 G
G
 197 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(194): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0261
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0038
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0018g0130
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0002g0128
a0003c0004t0014g0164
a0006c0020t0003g0127
a0007c0012t0032g0180
 197 HG00099.hp1
HG00140.hp2
HG00408.hp1
others(194): Show 
HG00099.hp1
HG00140.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01257.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp2
HG02258.hp2
HG02293.hp2
HG02523.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18993.hp2
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19030.hp1
NA19057.hp2
NA19062.hp2
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-21332G>C
c.1143-21332G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78860758
chr5:78860864 G
G
 A
A
 7 a0001c0003t0002g0013
a0001c0003t0002g0269
a0001c0003t0002g0349
others(4): Show 
a0001c0003t0002g0013
a0001c0003t0002g0269
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0012g0089
a0001c0003t0012g0350
a0001c0003t0027g0114
 7 HG00733.hp1
HG01168.hp2
HG02258.hp2
others(4): Show 
HG00733.hp1
HG01168.hp2
HG02258.hp2
HG02572.hp2
HG02647.hp1
HG03041.hp1
HG03195.hp2
 intron_variant MODIFIER c.1143-21438C>T
c.1143-21438C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78860864
chr5:78860871 TAATA
TAATA
 T
T
 24 a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
others(21): Show 
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0074g0073
a0001c0005t0075g0112
 24 HG01109.hp2
HG01243.hp2
HG01884.hp1
others(21): Show 
HG01109.hp2
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02109.hp1
HG02451.hp2
HG02622.hp1
HG02647.hp2
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02976.hp1
HG03195.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA18906.hp1
NA18906.hp2
NA19240.hp2
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.1143-21449_1143-21
others(10): Show 
c.1143-21449_1143-21446delTATT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78860871
chr5:78860954 C
C
 A
A
 1 a0002c0002t0001g0345
a0002c0002t0001g0345
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.1143-21528G>T
c.1143-21528G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78860954
chr5:78860963 G
G
 A
A
 65 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
others(62): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
 65 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(62): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02523.hp1
HG02698.hp1
HG02896.hp1
HG03225.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-21537C>T
c.1143-21537C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78860963
chr5:78860999 C
C
 A
A
 6 a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0006g0219
others(3): Show 
a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0006g0219
a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0001t0044g0091
 6 HG00741.hp1
HG01243.hp1
HG02717.hp1
others(3): Show 
HG00741.hp1
HG01243.hp1
HG02717.hp1
HG03098.hp2
HG03209.hp2
NA19030.hp1
 intron_variant MODIFIER c.1143-21573G>T
c.1143-21573G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78860999
chr5:78861019 G
G
 A
A
 1 a0002c0002t0005g0042
a0002c0002t0005g0042
 1 HG01257.hp1
HG01257.hp1
 intron_variant MODIFIER c.1143-21593C>T
c.1143-21593C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78861019
chr5:78861140 A
A
 T
T
 1 a0001c0001t0002g0261
a0001c0001t0002g0261
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.1143-21714T>A
c.1143-21714T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78861140
chr5:78861215 C
C
 A
A
 4 a0001c0003t0002g0160
a0001c0003t0002g0342
a0001c0003t0007g0132
others(1): Show 
a0001c0003t0002g0160
a0001c0003t0002g0342
a0001c0003t0007g0132
a0001c0003t0025g0341
 4 HG01167.hp2
HG01192.hp1
HG01981.hp1
others(1): Show 
HG01167.hp2
HG01192.hp1
HG01981.hp1
NA20752.hp2
 intron_variant MODIFIER c.1143-21789G>T
c.1143-21789G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78861215
chr5:78861228 C
C
 T
T
 4 a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0004g0122
others(1): Show 
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0004g0122
a0003c0004t0012g0123
 5 HG01257.hp2
HG01258.hp2
HG01433.hp2
others(2): Show 
HG01257.hp2
HG01258.hp2
HG01433.hp2
HG01952.hp2
HG02293.hp1
 intron_variant MODIFIER c.1143-21802G>A
c.1143-21802G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78861228
chr5:78861307 A
A
 C
C
 1 a0002c0002t0006g0211
a0002c0002t0006g0211
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.1143-21881T>G
c.1143-21881T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78861307
chr5:78861390 A
A
 C
C
 1 a0001c0001t0004g0278
a0001c0001t0004g0278
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.1143-21964T>G
c.1143-21964T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78861390
chr5:78861451 G
G
 A
A
 1 a0001c0003t0002g0270
a0001c0003t0002g0270
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.1143-22025C>T
c.1143-22025C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78861451
chr5:78861512 T
T
 C
C
 41 a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
others(38): Show 
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0028g0051
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0022t0006g0359
a0003c0014t0015g0202
a0005c0016t0002g0237
 41 HG00323.hp2
HG01109.hp2
HG01243.hp2
others(38): Show 
HG00323.hp2
HG01109.hp2
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03139.hp1
HG03195.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG04115.hp1
NA18906.hp1
NA18906.hp2
NA19043.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.1143-22086A>G
c.1143-22086A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78861512
chr5:78861513 G
G
 A
A
 41 a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
others(38): Show 
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0028g0051
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0022t0006g0359
a0003c0014t0015g0202
a0005c0016t0002g0237
 41 HG00323.hp2
HG01109.hp2
HG01243.hp2
others(38): Show 
HG00323.hp2
HG01109.hp2
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03139.hp1
HG03195.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG04115.hp1
NA18906.hp1
NA18906.hp2
NA19043.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.1143-22087C>T
c.1143-22087C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78861513
chr5:78861514 T
T
 C
C
 41 a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
others(38): Show 
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0028g0051
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0022t0006g0359
a0003c0014t0015g0202
a0005c0016t0002g0237
 41 HG00323.hp2
HG01109.hp2
HG01243.hp2
others(38): Show 
HG00323.hp2
HG01109.hp2
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03139.hp1
HG03195.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG04115.hp1
NA18906.hp1
NA18906.hp2
NA19043.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.1143-22088A>G
c.1143-22088A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78861514
chr5:78861528 T
T
 C
C
 2 a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0246
a0002c0002t0003g0247
 2 NA19000.hp1
NA19057.hp2
NA19000.hp1
NA19057.hp2
 intron_variant MODIFIER c.1143-22102A>G
c.1143-22102A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78861528
chr5:78861536 C
C
 G
G
 1 a0003c0004t0003g0095
a0003c0004t0003g0095
 1 HG03017.hp2
HG03017.hp2
 intron_variant MODIFIER c.1143-22110G>C
c.1143-22110G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78861536
chr5:78861560 C
C
 T
T
 1 a0001c0001t0008g0279
a0001c0001t0008g0279
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1143-22134G>A
c.1143-22134G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78861560
chr5:78861721 T
T
 C
C
 1 a0001c0018t0002g0016
a0001c0018t0002g0016
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.1143-22295A>G
c.1143-22295A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78861721
chr5:78861731 C
C
 T
T
 1 a0001c0003t0002g0349
a0001c0003t0002g0349
 1 HG01168.hp2
HG01168.hp2
 intron_variant MODIFIER c.1143-22305G>A
c.1143-22305G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78861731
chr5:78861821 T
T
 C
C
 1 a0001c0001t0002g0092
a0001c0001t0002g0092
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.1143-22395A>G
c.1143-22395A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78861821
chr5:78861942 A
A
 G
G
 33 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(30): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0003c0004t0014g0164
a0006c0020t0003g0127
 33 HG00438.hp2
HG00558.hp1
HG01261.hp2
others(30): Show 
HG00438.hp2
HG00558.hp1
HG01261.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01993.hp2
HG02135.hp1
HG03491.hp2
HG03492.hp2
HG03654.hp2
HG04115.hp2
HG04199.hp2
NA18942.hp1
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18963.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19077.hp2
NA19088.hp2
 intron_variant MODIFIER c.1143-22516T>C
c.1143-22516T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78861942
chr5:78861964 A
A
 C
C
 3 a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0069g0273
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0069g0273
 3 HG02572.hp1
HG02895.hp2
HG02897.hp1
HG02572.hp1
HG02895.hp2
HG02897.hp1
 intron_variant MODIFIER c.1143-22538T>G
c.1143-22538T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78861964
chr5:78862064 T
T
 G
G
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1143-22638A>C
c.1143-22638A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78862064
chr5:78862104 C
C
 G
G
 1 a0001c0001t0004g0009
a0001c0001t0004g0009
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.1143-22678G>C
c.1143-22678G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78862104
chr5:78862235 T
T
 A
A
 1 a0001c0001t0020g0028
a0001c0001t0020g0028
 1 NA19009.hp1
NA19009.hp1
 intron_variant MODIFIER c.1143-22809A>T
c.1143-22809A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78862235
chr5:78862299 G
G
 A
A
 37 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(34): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0003c0004t0014g0164
a0006c0020t0003g0127
 37 HG00438.hp2
HG00558.hp1
HG01261.hp2
others(34): Show 
HG00438.hp2
HG00558.hp1
HG01261.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01993.hp2
HG02135.hp1
HG03130.hp1
HG03491.hp2
HG03492.hp2
HG03654.hp2
HG04115.hp2
HG04199.hp2
NA18942.hp1
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18963.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19077.hp2
NA19088.hp2
NA19240.hp1
 intron_variant MODIFIER c.1143-22873C>T
c.1143-22873C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78862299
chr5:78862345 C
C
 T
T
 1 a0001c0003t0002g0253
a0001c0003t0002g0253
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.1143-22919G>A
c.1143-22919G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78862345
chr5:78862352 T
T
 C
C
 86 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(83): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0003c0014t0015g0202
a0005c0016t0002g0237
a0007c0012t0032g0180
 86 HG00323.hp2
HG00544.hp2
HG00733.hp1
others(83): Show 
HG00323.hp2
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01981.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02145.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03927.hp1
HG04115.hp1
HG04204.hp2
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19043.hp2
NA19063.hp1
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1143-22926A>G
c.1143-22926A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78862352
chr5:78862424 CCAATGGA
others(9044): Show 
CCAATGGAACAGAACAGAGCCCTCAGAAATACAACCTTCTGATCTTTGAC
AAACCTGACAAAAACAAGAAATAAGGAAAGTATTCCCTATTTAATACATG
GTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCT
TCCTTACACCTTATACAAAAATTAATTCAAGATGGATTAAAGACTTAAAT
GTTTGACCTAAAACCATAGAAACCCTAGAAGAAAAAAACCTAGGCATTAC
CATTCAGGACATAGGCATGGGCAAGGACTTCACGTCTAAAACACCAAAAG
CAATGGCAACAAAAGCCAAAATAGACAAATGGGATCTAATTAAACTAAAG
AGCTTCTGCACAGCAAAAAGAAACTACCATCAAAGTGAACAGGCAACCTA
CAGAATGGGAGAAAATTTTTACAATTTACCCATGTAACAAAGGGCTAATA
TCCAGAATCTACAAAGAACTTAAACAAATTTATAGGAAAAAATCAAGTAA
CCCCATCAAAAGGTGGGCAAAGGATATGAACAGACACTTCTCAAAAGAAG
ACATTTATGCAGCCAACAGACGCATGAAAAAAATGCTCATCATCACTGGT
CATCAGAGAAATGCAAATCAAAACCACAATGAGATACTATCTCACATTAG
TTAGAATGGCGATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGA
TGTGGAGAAATGGGAAGGCTTTTACATTGCTGGTGGGAGTGTAAACTAGT
TCAACCATTGTGGAAGACAGTGTGGCGATTCCTCAAGGATCTAGAACTAG
AAAAATCGTTTGACCCAGTGATCCCATTACTGGGTATATACCCAAAGGAT
TATAAATCATGCTACTATAAAGACACATGCACACGTATGTTTATTGCAGC
ACTATTCACAATAGCGAAGACTTGGAATCAACTCACATGTCCATCAATGA
TAGACTGGATTAAGAAAACATGGCACATATACACCATGGAATACTGTACA
GCCATAAAAAAGGACGAGTTCATGTCCTTTGTAGGGACATGGATGAAGCT
GAAAACCATCACTCTGAGCAAACTATAGCAAGGACAGAAAACCAAACACT
GCATGTTCTCACTCATAGGTGGGAATTGAACAATGAGGACACTTGGACAC
GGGGCGGGGAACATCACACACTGGGGCCTGTTGTGGGGTGGGGGGTGGGG
GTAGGGATGGCATTAAGAGAAATACCTATTGTAAATGATGTGTTAATGGG
TGCAGGACACCAACATGGCACATGTATACATATGTAACAAACCTGCACAT
TGTGCACATGTACCCTAGAACTTAAAGTATAATAATAATAAAAAAAAATA
GATAGTCACTTCATAGTCTTTGCATGCAGGGCTACTGATTGTTGTTCCTA
TCATCTTTATTTCATAAACCATATCTATAATGTTTTATCTATAGTTTCTA
GTGCTGTTTTTCTTAAAGTGGAATAAGAACCTAAGAACATGTGAATTTTT
AGATTTTCATAGAATAATGGTGGCCATCTAAATTTAAAATCCCTTCATAC
ATTCTCTTTAAAAACCATATTGATAAAGAAAGAAAGTAATATCAACCAAA
GCAGAAGCCTATGACACAAGCAGGAGACAAGGCCTATTTAAACCCTGGGT
GAAGTGAGGAAACAACCCTCTGAGACCTGAAGAGTCAGGACTGGTACCCA
CCCAAGGGCAGAGTCAGGCTAGAATTATGCAAAAGAGGGTTAGGGGGTAC
AAGAGGAGTGTATTAGTCCGTTTTCATGCTGCTGATAAAGACATCCCCAA
GACTGGACAATTTACAAAAGAAAGAGGATTAATTGGACTACAGTTACACA
TGGCTGGCGAAGCCTCACAATCATGGTGGAAGGCAAGGAGGAGCAAGTCC
CATCTTACATGGATGGCAGCAGGCAAAGAGAGAATGAGGAAGATGCAAAA
GGAGAAACCCCTGACAAAACCATCAGATCTCATGAGACTTATTCACTACC
ACGAGAACAGTATGGAGGAAACTGCCCCCATGATTCAATTATCTGCCACC
GGGTCCCTCCCATGACACATGAGAATTATGGGAGTACAGTTCCAGATGAG
ATCTGGTGGGGACACAGAGCCAAACCATATCATTCCACCCCTGGCCCCTC
CCAAATCTCATGTCCTCCCATTTCAAAACCAATCATGCCTTCCCAACAGT
CCCCCAAAGTCTTAACTTGTTTCAGCATTAACTCAAAAGTCCACATTCCA
AAGTCTCATCTGAGACAAGGCAAGTCCCTTATGCCTATGAGCCTGTAAAA
TCAAAAGCAAGCTAGTTATTTCCTAAATACAAGGGGGATACAGACATTGG
GTAAATCCGACCATTCCAAATGGGAGAAATTGGCCAAAACAAAGTGGCTA
CAGGGCCCATGCAAGTCCAAAATCCAGTGGGGCAGTCAAATCTTAAAGCT
CCAGAAATGATCTCAAACTCCATGTCTCACATCCAGGTCACGCTGATGCA
AGAGGTGGGTTCCCATGGTCTTGGGCAGCTCTGCCCCTGTGGCTTTGCAG
GGTACAACCTCCCTCCTGGCTGCTTTCATGGGCTGGCATTGAGTGTCTGT
GGCTTTTCCAGGTGCATGGTGCAAGCTGTCGTGGGTCTATCATTCTGGGG
TCTGGAGGATAGTGGCCCTCTTCTCACAGCTCCACTAGGACTCCGTATAG
GGGTTCTGGCCCCACATTTCCCTTCCATCCTGCCCTAGCAGAGGTTCTCC
GTGAGTATCCCACCCCTGCAGCAAACTCTTGCCTGGGCATCCAGGCATTT
CCACACATCTTCTGAAATATAGGCAGAGGTTCCCAAACCCCAATTCTCAA
CTTCTGTGCACTGGCAGGCTCAACACCACGTGGAAGCTGCCAAGGCTTGG
GGCTTACACCCTCTGAAACCATGGCCCAAGCTCTACATTGGCCCCTTTTG
GCCATGGCTGGAGTGGCTGGGACACAGGGCACCAAATCCCTAGGCTGTAC
ACAGCACAGGGACCCTAGGCCTGGCCCCTGAAACCACTTTTTGCTCCTAG
GCCTCCAGTCCTGTTATAGGAGGGGCTGCCATGAAGACCTCTGACACGCC
CTGGAGACATTTTTCCCATTGTCTTGAGAATCAACATTTGGCTCCTGATT
ACTTATGCAAATTTCCACAGCCTGCTTGAATTTCTACTCAGAAAATGGAA
TTTTCTTTTCTATCACATTGTCAGGCTGCAAATTATTCAAACTTTTATGC
TCTGCTTCCCTTATAAAACTGAATGCCTTTAACAGAACCCAAATAACCTC
TTGAATGCTTTGCTGCTTAGAAATTTCCTCTGCCAGATACCCTAAATCAT
CTCTCTCAAATTCAAAGTTCCACAAATCTCTAGGGCAGGGGCAAAATGTC
ACCAATCTCTTTGTTAAAACATAGCAAGAGTCACCTTTGCTCCAGTTCCC
AACAAGTGCCTCATCTCCATCCAAGACCACCTCAGCCTGGATTTCATTGT
CCATATTGCTATCAGCATTTTGGGTAAAGCCATTCAACAAATCTCTAGGA
GGTTCCAAACTTTCCCACATTTTCCTGTCTTCTTCTGAGCCCTCCAAACT
GTTCCAACCTCTGCCTATTACCCAGTTCCAAAGTGGCTTCCACATTTTCA
GGTATCTTTTCATCAGTGCCCCACTCTACTGGGCCAATTTACTGTATTAC
TCTGTTTTCATGCTGCTGATAAAGACATACCCAAGACTGGGTAATTTACC
AAAGAAAGAGGTTTATTTGGACTTACAGTTTCACTTGGCTGGGGAGGCCT
CACAGTCATGGTGGAAGGCAAGGAGGAGCCAGTCACGTTTTACATGAATG
GCAGCAGGCAAAACGAGAGCTTGCACAGGGAAATTTCCCCTTATATTACC
ATCAGATCTTGTGAGCCCTATTCACTATCATGAGAACAGCATAGGAAAGA
CCTGCCCCATGATTCAATTACCTCCCACTGGGTCCCTGCCACAACACATG
GGAATTCAAGATGAGATTTGGGTGGGGACACAGCCAAACCATATCAAGGG
GAAAGGACTCAAATAACGTCTGATAAGATAAACTCCAGAAAGAGAAGGTC
ACACCCAAGGGACAAAATGTTGATAGAGGTCTCATACCTGACAGATCAAA
GCACTGGCTAGTGGGGAGTCAAAAGGGAGTCCAAGGAAGTAGCTTGGATA
AGGAAGTGTGCAGGACGAGAGTGGCTGCCTTGGGCAGCTGAGATGCTGAG
AGAGGAGCAGCTGAAGAACAAGTGTCCTTTGGAAGATGGATGGTAAAGGG
AAGGAAGGACATGGCCAAAGATCAGGGTTCCATTATAATAACACAGTGTC
AGAGAATCATGAGAAGGCAGACCAAAAAGAAAGGGGCTGAGCCAAGATGG
CCGAATAGGGACAGTTCCGGTCTACGGCTCCCAGCATGAGCGACGCAGAA
GACGGGTGATTTCTGCATTTCCATCTGAGGTACCGGGTTCATCTCACCAG
GGAGTGCAAGACAGTGGGCGCAGGCCAGTGGGTGCGCACACCGTGCGCGA
GCCAAAGCAGGGCGAGGCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGG
GAGTTCCCTTTCCGAGTCAAAGAAAGGGGTGACAGACGCACCTGGAAAAT
CGGGTCACTCCCACCCGAATATTGCGCTTTTCAGACTGGCTTAAAAAACG
GCGTACCACGAGACTATATCCCACACCTGGCTCGGAGGGTCCTACACCCA
CGGAATCTCGCTGATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGC
GGCAGCGAGGCTGGGGGAGAGGCGCCCGCCATTGCCCAGGCTTGCTTAGG
TAAACAAAGCAGCCGGGAAGCTCGAACTGGGTGGAGCCCACCACAGCTCA
AGGAGGCCTGCCTGCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGA
CAAACAAAAAGACAGCAGTAACCTCTGCAGACTTAAATGTCCCTGTCTGA
CAGCCTTGAAGAGAGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAG
AACGGGTAGACTGCCTCCACAAGTGGGTCCCTGACCCCTGACCCCCGAGC
AGCCTAACTGGGAGGCACCCCCCAGCAGGGGCACACTGACACCTCACACG
GCAGGGTATTCCAACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGA
AAACTCACAAACAGAAAGGACACCGAAAACCCATCTGTACATCACCATCA
TCAAAGACCAAAAGTAGATAAAACCACAAAGGTGGGGAAAAAACAGAACA
GAAAAACTGGGAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAA
CGCAGTTCCTCACCAGCAATGGAACAAAGCTGGATGGAGAATGATTTTGA
CGAGCTGAGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGG
AGGACATTCAAACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTA
GAAGAATGTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCT
GATGGAGCTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCC
TCAGGAGCCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGAT
GAAATGAATGAAATGAAGCAAGAAGGGACGTTTAGAGAAAAAAGAATAAA
AAGAAATGAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAA
ATCTACGTCTGATTGGTGTACCTGAAAGTGATGCGGAGAATGGAACCAAG
TTGGCAAACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGC
AAGGCAGGCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGAT
ACTCCTCGAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAA
GTTGAAATGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGT
TACCCTCAAAGGGAAGCCCATCAGACTAACAGTGGATCTCTTGGCAGAAA
CCCTACAAGCCAGAGGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAA
AAGAATTTTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAG
TGAAGGAGAAATAAAATACTTTACAGACAAGCAAATGCTGACCGATTTTG
TCACCACCAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCACTAAACATG
GAAAGGAACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAG
ACCATCGAGACTAGGAAGAAACTGCATCAACTAACGAGCAAAATCACCAG
CTAACATCATAATGACAGGATCAAATTCACACATAACAATATTAACTTTA
AATGTAAATGGACTAAATGCTACAATTAAAAGACACAGACTGGCAAGTTG
GATAAAGAGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCA
CGTGCAGAGACACACATAGGCTCAAAATGAAAGGAAGGAGGAAGATCTAC
CAAGCAAATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGA
TAAAACAGACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATT
ACATACTGGTAAAGGGATCAATTCAACAAGAAGAGCTAACTATCCTAAAT
ATATATGCACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTGAG
TGACCTACAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTCA
ATACCCCACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAG
GATACCCAGGAATTGAACTCAGCTCTGCACCAAGCGGACCTAATAGACAT
CTACAGAACTCTCCACCCCAAGTCAACAGAATATACATTTTTTTCAGCAC
CACACCACACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTC
CTCAGCAAATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCA
CAGTGCAATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCT
CAACTACATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACAT
AACGAAATGAAGGCAGAAGTAAAGATGTTCTTTGAAACCAGCGAGAACAA
AGACACAACATACCAGAATCTCTGGGACGCATTCAAAGCAGTGTGTAGAG
GGAAATTTATAGCACTAAATGCCCACAAGAGAAAGCAGGAAAGATCCAAA
ATTGACACCCTAACATCACAATTAAAACAACTAGAAAAGCAAGAGCAAAC
ACATTCAAAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAAC
TGAAGGAAATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGG
AGCTGGTTTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACT
AACAAAGAAGAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATA
AAGGGGATATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAA
TACTACAAACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGA
TACATTCCTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTG
AATCTCTGAATAGACCAATAACAGGAGCTGAAATTGTGGCAATAATCAAT
ATTTTACCAACCAAAAAGAGTCCAGGACCAGAAGGATTCACAGCCGAATT
CTACCAGAGGTACAAGGAGGAACTGGTACCATTCTTTCTGAAACTATTCC
AATCAATAGAAAAAGAGAGAATCCTCCCTAACTCATTTTATGAGTCCAGC
ATCATCCTGATACCAAAGCCAGGCAGAGACACAACCAAAAAAGAGAATTT
TAGACCAATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATAC
TGGCAAACCAAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAA
GTGGGCTTCATCCCTGGGATGCAAGGCTGCTTCAATATACGCAAATCAAT
AAATGTAATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTA
TCTCAATAGATGCAGAAAAAGCCTTTGACAAAATTCAACAACACTTCATG
TTAAAAACTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAAT
AAGAGCTATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAA
AACTGGAAGCATTCCCTTTGAAAACTGGCACAAGACAGGGATGCCCTCTC
TCACCACTCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATTAG
GCAGGGGAAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAAT
TGTCCCTGTTTGCAGATTACATGATTGTTTATCTAGAAAACCCCATTGTC
TCAGCCCCAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGG
ATACAAAATCAATATACAAAAATCACAAGCATTCCTATACACCAACAACA
GACAAACAGAGAGCCAAATCATGAGTGAACTCCCATTCACAATTGCTTCA
AAGAGAATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCT
CTTCAAGGAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGATACAA
ACAAATGGAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTG
AAAATGGCCATACTGCCCAAGGTAATTTACAGGTTCAATGCCAACCCCAT
CAAGCTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTCAAGT
TCATATGGAACCAAAAAAGAGCCCTCATTGCCAAGTCAATCCTAAGCCAA
AAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAA
GGCTTCAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAG
AT
 C
C
 1 a0001c0001t0002g0317
a0001c0001t0002g0317
 1 NA18979.hp2
NA18979.hp2
 intron_variant MODIFIER c.1142+14109_1143-22
others(6): Show 
c.1142+14109_1143-22999del
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78862424
chr5:78862549 T
T
 A
A
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1142+23035A>T
c.1142+23035A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78862549
chr5:78862573 T
T
 C
C
 1 a0001c0003t0012g0177
a0001c0003t0012g0177
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.1142+23011A>G
c.1142+23011A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78862573
chr5:78862582 C
C
 T
T
 13 a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
others(10): Show 
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
 13 HG01891.hp1
HG02145.hp1
HG02572.hp1
others(10): Show 
HG01891.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.1142+23002G>A
c.1142+23002G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78862582
chr5:78862710 T
T
 C
C
 1 a0001c0003t0002g0082
a0001c0003t0002g0082
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.1142+22874A>G
c.1142+22874A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78862710
chr5:78862756 G
G
 C
C
 38 a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
others(35): Show 
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
 38 HG00408.hp1
HG00544.hp1
HG00558.hp2
others(35): Show 
HG00408.hp1
HG00544.hp1
HG00558.hp2
HG01515.hp1
HG01517.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG02683.hp2
HG03834.hp1
HG03942.hp2
HG04184.hp1
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18954.hp1
NA18961.hp2
NA18968.hp1
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA20752.hp1
 intron_variant MODIFIER c.1142+22828C>G
c.1142+22828C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78862756
chr5:78862856 T
T
 G
G
 2 a0001c0001t0001g0263
a0001c0001t0010g0264
a0001c0001t0001g0263
a0001c0001t0010g0264
 2 HG03491.hp2
HG03492.hp2
HG03491.hp2
HG03492.hp2
 intron_variant MODIFIER c.1142+22728A>C
c.1142+22728A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78862856
chr5:78862992 G
G
 A
A
 7 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0144
others(4): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0010g0029
a0001c0001t0020g0028
 7 NA18942.hp2
NA18952.hp2
NA18983.hp1
others(4): Show 
NA18942.hp2
NA18952.hp2
NA18983.hp1
NA18992.hp2
NA19009.hp1
NA19057.hp1
NA19077.hp1
 intron_variant MODIFIER c.1142+22592C>T
c.1142+22592C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78862992
chr5:78862994 C
C
 T
T
 1 a0001c0001t0001g0305
a0001c0001t0001g0305
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.1142+22590G>A
c.1142+22590G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78862994
chr5:78863070 T
T
 C
C
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1142+22514A>G
c.1142+22514A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78863070
chr5:78863087 C
C
 A
A
 85 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(82): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0003c0014t0015g0202
a0005c0016t0002g0237
a0007c0012t0032g0180
 85 HG00323.hp2
HG00544.hp2
HG00733.hp1
others(82): Show 
HG00323.hp2
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01981.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02145.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03927.hp1
HG04115.hp1
HG04204.hp2
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19043.hp2
NA19063.hp1
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1142+22497G>T
c.1142+22497G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78863087
chr5:78863279 A
A
 C
C
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1142+22305T>G
c.1142+22305T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78863279
chr5:78863308 G
G
 A
A
 1 a0001c0001t0007g0115
a0001c0001t0007g0115
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.1142+22276C>T
c.1142+22276C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78863308
chr5:78863338 C
C
 T
T
 2 a0003c0004t0001g0154
a0003c0004t0007g0331
a0003c0004t0001g0154
a0003c0004t0007g0331
 2 HG02602.hp1
HG03927.hp2
HG02602.hp1
HG03927.hp2
 intron_variant MODIFIER c.1142+22246G>A
c.1142+22246G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78863338
chr5:78863439 G
G
 A
A
 23 a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
others(20): Show 
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0270
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0074g0073
a0001c0005t0075g0112
 23 HG01109.hp2
HG01243.hp2
HG01884.hp1
others(20): Show 
HG01109.hp2
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02109.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02976.hp1
HG03195.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA18906.hp1
NA18906.hp2
NA19240.hp2
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.1142+22145C>T
c.1142+22145C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78863439
chr5:78863549 T
T
 C
C
 14 a0001c0001t0008g0279
a0001c0003t0006g0156
a0001c0003t0006g0267
others(11): Show 
a0001c0001t0008g0279
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
 14 HG01891.hp1
HG02145.hp1
HG02280.hp2
others(11): Show 
HG01891.hp1
HG02145.hp1
HG02280.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.1142+22035A>G
c.1142+22035A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78863549
chr5:78863765 A
A
 T
T
 1 a0001c0018t0002g0016
a0001c0018t0002g0016
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.1142+21819T>A
c.1142+21819T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78863765
chr5:78863812 T
T
 C
C
 64 a0001c0001t0002g0039
a0001c0001t0005g0038
a0001c0001t0013g0329
others(61): Show 
a0001c0001t0002g0039
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
 64 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(61): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02523.hp1
HG02698.hp1
HG02896.hp1
HG03225.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+21772A>G
c.1142+21772A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78863812
chr5:78863822 T
T
 C
C
 1 a0001c0001t0013g0329
a0001c0001t0013g0329
 1 NA18953.hp2
NA18953.hp2
 intron_variant MODIFIER c.1142+21762A>G
c.1142+21762A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78863822
chr5:78863911 CAT
CAT
 C
C
 32 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(29): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0021t0003g0358
a0007c0012t0032g0180
 32 HG00544.hp2
HG00733.hp1
HG01069.hp1
others(29): Show 
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01981.hp1
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02258.hp2
HG02572.hp2
HG02647.hp1
HG02738.hp1
HG03041.hp1
HG03195.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1142+21671_1142+21
others(8): Show 
c.1142+21671_1142+21672delAT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78863911
chr5:78864170 G
G
 T
T
 1 a0003c0004t0007g0331
a0003c0004t0007g0331
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.1142+21414C>A
c.1142+21414C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78864170
chr5:78864483 C
C
 A
A
 64 a0001c0001t0002g0039
a0001c0001t0005g0038
a0001c0001t0013g0329
others(61): Show 
a0001c0001t0002g0039
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
 64 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(61): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02523.hp1
HG02698.hp1
HG02896.hp1
HG03225.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+21101G>T
c.1142+21101G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78864483
chr5:78864760 G
G
 A
A
 3 a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
 3 HG02055.hp1
NA18906.hp2
NA19240.hp2
HG02055.hp1
NA18906.hp2
NA19240.hp2
 intron_variant MODIFIER c.1142+20824C>T
c.1142+20824C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78864760
chr5:78864783 A
A
 T
T
 2 a0001c0001t0031g0324
a0001c0007t0004g0100
a0001c0001t0031g0324
a0001c0007t0004g0100
 2 HG03130.hp2
HG03540.hp2
HG03130.hp2
HG03540.hp2
 intron_variant MODIFIER c.1142+20801T>A
c.1142+20801T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78864783
chr5:78864818 T
T
 G
G
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1142+20766A>C
c.1142+20766A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78864818
chr5:78864917 T
T
 C
C
 41 a0001c0001t0001g0087
a0001c0001t0003g0256
a0001c0001t0003g0257
others(38): Show 
a0001c0001t0001g0087
a0001c0001t0003g0256
a0001c0001t0003g0257
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
 41 HG00408.hp1
HG00544.hp1
HG00558.hp2
others(38): Show 
HG00408.hp1
HG00544.hp1
HG00558.hp2
HG01106.hp2
HG01515.hp1
HG01517.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG02683.hp2
HG03834.hp1
HG03942.hp2
HG04184.hp1
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18954.hp1
NA18961.hp2
NA18968.hp1
NA18968.hp2
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA20752.hp1
 intron_variant MODIFIER c.1142+20667A>G
c.1142+20667A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78864917
chr5:78864922 C
C
 A
A
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1142+20662G>T
c.1142+20662G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78864922
chr5:78865012 T
T
 C
C
 1 a0002c0002t0001g0183
a0002c0002t0001g0183
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.1142+20572A>G
c.1142+20572A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78865012
chr5:78865025 G
G
 A
A
 1 a0001c0001t0002g0218
a0001c0001t0002g0218
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1142+20559C>T
c.1142+20559C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78865025
chr5:78865110 A
A
 AGGGGGTG
others(9): Show 
AGGGGGTGTCCTAGTAG
 177 a0001c0001t0002g0039
a0001c0001t0003g0214
a0001c0001t0004g0328
others(174): Show 
a0001c0001t0002g0039
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0013g0329
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0007c0012t0032g0180
 178 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(175): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04204.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19084.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+20473_1142+20
others(22): Show 
c.1142+20473_1142+20474insCTACTAGGACACCCCC
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78865110
chr5:78865146 T
T
 C
C
 1 a0001c0001t0001g0265
a0001c0001t0001g0265
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.1142+20438A>G
c.1142+20438A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78865146
chr5:78865266 A
A
 G
G
 32 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(29): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0021t0003g0358
a0007c0012t0032g0180
 32 HG00544.hp2
HG00733.hp1
HG01069.hp1
others(29): Show 
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01981.hp1
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02258.hp2
HG02572.hp2
HG02647.hp1
HG02738.hp1
HG03041.hp1
HG03195.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1142+20318T>C
c.1142+20318T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78865266
chr5:78865419 T
T
 C
C
 1 a0001c0001t0001g0084
a0001c0001t0001g0084
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.1142+20165A>G
c.1142+20165A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78865419
chr5:78865617 A
A
 G
G
 4 a0002c0002t0002g0125
a0002c0002t0003g0129
a0002c0002t0026g0086
others(1): Show 
a0002c0002t0002g0125
a0002c0002t0003g0129
a0002c0002t0026g0086
a0002c0002t0038g0006
 4 HG02004.hp2
HG03834.hp1
HG03942.hp2
others(1): Show 
HG02004.hp2
HG03834.hp1
HG03942.hp2
NA20752.hp1
 intron_variant MODIFIER c.1142+19967T>C
c.1142+19967T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78865617
chr5:78865711 C
C
 T
T
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1142+19873G>A
c.1142+19873G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78865711
chr5:78865715 A
A
 C
C
 17 a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
others(14): Show 
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0018g0057
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0022t0006g0359
a0003c0014t0015g0202
a0005c0016t0002g0237
 17 HG00323.hp2
HG01515.hp2
HG02040.hp2
others(14): Show 
HG00323.hp2
HG01515.hp2
HG02040.hp2
HG02055.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG03139.hp1
HG04115.hp1
NA19043.hp2
NA20129.hp2
 intron_variant MODIFIER c.1142+19869T>G
c.1142+19869T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78865715
chr5:78865716 A
A
 G
G
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1142+19868T>C
c.1142+19868T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78865716
chr5:78865965 T
T
 C
C
 1 a0001c0001t0034g0072
a0001c0001t0034g0072
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1142+19619A>G
c.1142+19619A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78865965
chr5:78866001 T
T
 C
C
 1 a0002c0002t0063g0198
a0002c0002t0063g0198
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.1142+19583A>G
c.1142+19583A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78866001
chr5:78866014 C
C
 T
T
 1 a0002c0002t0052g0098
a0002c0002t0052g0098
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.1142+19570G>A
c.1142+19570G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78866014
chr5:78866199 C
C
 T
T
 1 a0001c0001t0008g0297
a0001c0001t0008g0297
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.1142+19385G>A
c.1142+19385G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78866199
chr5:78866260 G
G
 A
A
 3 a0002c0002t0001g0231
a0002c0002t0003g0225
a0002c0002t0005g0241
a0002c0002t0001g0231
a0002c0002t0003g0225
a0002c0002t0005g0241
 3 NA18992.hp1
NA19062.hp2
NA19065.hp1
NA18992.hp1
NA19062.hp2
NA19065.hp1
 intron_variant MODIFIER c.1142+19324C>T
c.1142+19324C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78866260
chr5:78866332 T
T
 G
G
 2 a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0173
a0001c0001t0021g0174
 2 NA18943.hp2
NA18978.hp2
NA18943.hp2
NA18978.hp2
 intron_variant MODIFIER c.1142+19252A>C
c.1142+19252A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78866332
chr5:78866336 G
G
 A
A
 3 a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0007t0068g0111
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0007t0068g0111
 3 HG02976.hp2
HG03041.hp2
HG03516.hp2
HG02976.hp2
HG03041.hp2
HG03516.hp2
 intron_variant MODIFIER c.1142+19248C>T
c.1142+19248C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78866336
chr5:78866340 C
C
 A
A
 1 a0002c0002t0003g0025
a0002c0002t0003g0025
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.1142+19244G>T
c.1142+19244G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78866340
chr5:78866412 C
C
 G
G
 6 a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0006g0219
others(3): Show 
a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0006g0219
a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0001t0044g0091
 6 HG00741.hp1
HG01243.hp1
HG02717.hp1
others(3): Show 
HG00741.hp1
HG01243.hp1
HG02717.hp1
HG03098.hp2
HG03209.hp2
NA19030.hp1
 intron_variant MODIFIER c.1142+19172G>C
c.1142+19172G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78866412
chr5:78866481 C
C
 T
T
 32 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(29): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0003c0004t0014g0164
a0006c0020t0003g0127
 32 HG00558.hp1
HG01261.hp2
HG01943.hp1
others(29): Show 
HG00558.hp1
HG01261.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01993.hp2
HG02135.hp1
HG03491.hp2
HG03492.hp2
HG03654.hp2
HG04115.hp2
HG04199.hp2
NA18942.hp1
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18963.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19077.hp2
NA19088.hp2
 intron_variant MODIFIER c.1142+19103G>A
c.1142+19103G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78866481
chr5:78866490 C
C
 T
T
 13 a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
others(10): Show 
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
 13 HG01891.hp1
HG02145.hp1
HG02572.hp1
others(10): Show 
HG01891.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.1142+19094G>A
c.1142+19094G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78866490
chr5:78866594 A
A
 G
G
 1 a0001c0003t0018g0057
a0001c0003t0018g0057
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.1142+18990T>C
c.1142+18990T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78866594
chr5:78866629 G
G
 C
C
 1 a0002c0002t0003g0025
a0002c0002t0003g0025
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.1142+18955C>G
c.1142+18955C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78866629
chr5:78866681 C
C
 G
G
 5 a0001c0001t0002g0039
a0001c0001t0005g0038
a0002c0002t0005g0340
others(2): Show 
a0001c0001t0002g0039
a0001c0001t0005g0038
a0002c0002t0005g0340
a0002c0002t0011g0230
a0002c0002t0011g0234
 5 HG00423.hp1
HG02132.hp2
HG02523.hp1
others(2): Show 
HG00423.hp1
HG02132.hp2
HG02523.hp1
NA18612.hp1
NA18969.hp1
 intron_variant MODIFIER c.1142+18903G>C
c.1142+18903G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78866681
chr5:78866710 T
T
 C
C
 5 a0001c0001t0003g0159
a0001c0001t0004g0058
a0001c0007t0036g0259
others(2): Show 
a0001c0001t0003g0159
a0001c0001t0004g0058
a0001c0007t0036g0259
a0001c0007t0077g0070
a0001c0017t0002g0088
 5 HG01167.hp1
HG02886.hp1
HG02922.hp1
others(2): Show 
HG01167.hp1
HG02886.hp1
HG02922.hp1
HG03098.hp1
NA19030.hp2
 intron_variant MODIFIER c.1142+18874A>G
c.1142+18874A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78866710
chr5:78866721 G
G
 C
C
 40 a0001c0001t0003g0256
a0001c0001t0003g0257
a0002c0002t0001g0231
others(37): Show 
a0001c0001t0003g0256
a0001c0001t0003g0257
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
 40 HG00408.hp1
HG00544.hp1
HG00558.hp2
others(37): Show 
HG00408.hp1
HG00544.hp1
HG00558.hp2
HG01515.hp1
HG01517.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG02683.hp2
HG03834.hp1
HG03942.hp2
HG04184.hp1
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18954.hp1
NA18961.hp2
NA18968.hp1
NA18968.hp2
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA20752.hp1
 intron_variant MODIFIER c.1142+18863C>G
c.1142+18863C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78866721
chr5:78866759 T
T
 A
A
 64 a0001c0001t0002g0039
a0001c0001t0005g0038
a0001c0001t0013g0329
others(61): Show 
a0001c0001t0002g0039
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
 64 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(61): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02523.hp1
HG02698.hp1
HG02896.hp1
HG03225.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+18825A>T
c.1142+18825A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78866759
chr5:78866837 G
G
 C
C
 45 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(42): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0007c0012t0032g0180
 45 HG00544.hp2
HG00733.hp1
HG01069.hp1
others(42): Show 
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01891.hp1
HG01981.hp1
HG02056.hp2
HG02071.hp1
HG02145.hp1
HG02155.hp2
HG02258.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02717.hp2
HG02738.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03041.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03540.hp1
HG03927.hp1
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1142+18747C>G
c.1142+18747C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78866837
chr5:78866842 G
G
 A
A
 4 a0001c0001t0001g0031
a0001c0001t0001g0168
a0001c0001t0001g0169
others(1): Show 
a0001c0001t0001g0031
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0010g0029
 4 NA18952.hp2
NA18983.hp1
NA19057.hp1
others(1): Show 
NA18952.hp2
NA18983.hp1
NA19057.hp1
NA19077.hp1
 intron_variant MODIFIER c.1142+18742C>T
c.1142+18742C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78866842
chr5:78866883 T
T
 C
C
 1 a0001c0007t0004g0100
a0001c0007t0004g0100
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.1142+18701A>G
c.1142+18701A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78866883
chr5:78866908 G
G
 A
A
 2 a0001c0003t0002g0338
a0001c0003t0014g0220
a0001c0003t0002g0338
a0001c0003t0014g0220
 2 HG02056.hp2
HG02155.hp2
HG02056.hp2
HG02155.hp2
 intron_variant MODIFIER c.1142+18676C>T
c.1142+18676C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78866908
chr5:78866916 C
C
 T
T
 1 a0001c0003t0002g0262
a0001c0003t0002g0262
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.1142+18668G>A
c.1142+18668G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78866916
chr5:78866927 G
G
 A
A
 1 a0001c0007t0004g0100
a0001c0007t0004g0100
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.1142+18657C>T
c.1142+18657C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78866927
chr5:78866966 G
G
 A
A
 1 a0002c0002t0026g0086
a0002c0002t0026g0086
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.1142+18618C>T
c.1142+18618C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78866966
chr5:78867002 C
C
 T
T
 1 a0002c0002t0026g0176
a0002c0002t0026g0176
 1 HG01978.hp2
HG01978.hp2
 intron_variant MODIFIER c.1142+18582G>A
c.1142+18582G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78867002
chr5:78867003 T
T
 C
C
 1 a0002c0002t0026g0176
a0002c0002t0026g0176
 1 HG01978.hp2
HG01978.hp2
 intron_variant MODIFIER c.1142+18581A>G
c.1142+18581A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78867003
chr5:78867036 C
C
 T
T
 9 a0001c0003t0002g0276
a0001c0003t0006g0103
a0001c0003t0018g0057
others(6): Show 
a0001c0003t0002g0276
a0001c0003t0006g0103
a0001c0003t0018g0057
a0001c0003t0034g0071
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0015t0027g0102
a0001c0022t0006g0359
a0005c0016t0002g0237
 9 HG02055.hp2
HG02559.hp1
HG02559.hp2
others(6): Show 
HG02055.hp2
HG02559.hp1
HG02559.hp2
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG03139.hp1
NA19043.hp2
NA20129.hp2
 intron_variant MODIFIER c.1142+18548G>A
c.1142+18548G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78867036
chr5:78867057 A
A
 G
G
 1 a0002c0002t0001g0298
a0002c0002t0001g0298
 1 NA18985.hp1
NA18985.hp1
 intron_variant MODIFIER c.1142+18527T>C
c.1142+18527T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78867057
chr5:78867083 C
C
 T
T
 1 a0001c0003t0006g0212
a0001c0003t0006g0212
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.1142+18501G>A
c.1142+18501G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78867083
chr5:78867127 T
T
 C
C
 177 a0001c0001t0002g0039
a0001c0001t0003g0214
a0001c0001t0004g0328
others(174): Show 
a0001c0001t0002g0039
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0013g0329
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0007c0012t0032g0180
 178 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(175): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04204.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19084.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+18457A>G
c.1142+18457A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78867127
chr5:78867243 A
A
 G
G
 1 a0002c0002t0025g0213
a0002c0002t0025g0213
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.1142+18341T>C
c.1142+18341T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78867243
chr5:78867251 G
G
 A
A
 1 a0001c0001t0004g0337
a0001c0001t0004g0337
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.1142+18333C>T
c.1142+18333C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78867251
chr5:78867288 G
G
 A
A
 3 a0001c0005t0075g0112
a0003c0004t0023g0148
a0003c0004t0023g0151
a0001c0005t0075g0112
a0003c0004t0023g0148
a0003c0004t0023g0151
 3 HG00738.hp2
HG01070.hp1
HG02976.hp1
HG00738.hp2
HG01070.hp1
HG02976.hp1
 intron_variant MODIFIER c.1142+18296C>T
c.1142+18296C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78867288
chr5:78867302 G
G
 T
T
 24 a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
others(21): Show 
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0074g0073
a0001c0005t0075g0112
 24 HG01109.hp2
HG01243.hp2
HG01884.hp1
others(21): Show 
HG01109.hp2
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02109.hp1
HG02451.hp2
HG02622.hp1
HG02647.hp2
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02976.hp1
HG03195.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA18906.hp1
NA18906.hp2
NA19240.hp2
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.1142+18282C>A
c.1142+18282C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78867302
chr5:78867322 C
C
 A
A
 12 a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
others(9): Show 
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0018g0057
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0022t0006g0359
a0005c0016t0002g0237
 12 HG02055.hp2
HG02258.hp1
HG02451.hp1
others(9): Show 
HG02055.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02723.hp1
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG03139.hp1
NA19043.hp2
NA20129.hp2
 intron_variant MODIFIER c.1142+18262G>T
c.1142+18262G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78867322
chr5:78867330 C
C
 A
A
 24 a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
others(21): Show 
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0074g0073
a0001c0005t0075g0112
 24 HG01109.hp2
HG01243.hp2
HG01884.hp1
others(21): Show 
HG01109.hp2
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02109.hp1
HG02451.hp2
HG02622.hp1
HG02647.hp2
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02976.hp1
HG03195.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA18906.hp1
NA18906.hp2
NA19240.hp2
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.1142+18254G>T
c.1142+18254G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78867330
chr5:78867376 A
A
 T
T
 64 a0001c0001t0002g0039
a0001c0001t0005g0038
a0001c0001t0013g0329
others(61): Show 
a0001c0001t0002g0039
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
 64 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(61): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02523.hp1
HG02698.hp1
HG02896.hp1
HG03225.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+18208T>A
c.1142+18208T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78867376
chr5:78867480 T
T
 C
C
 1 a0001c0001t0065g0017
a0001c0001t0065g0017
 1 NA19066.hp2
NA19066.hp2
 intron_variant MODIFIER c.1142+18104A>G
c.1142+18104A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78867480
chr5:78867503 C
C
 T
T
 1 a0002c0002t0007g0313
a0002c0002t0007g0313
 1 NA19002.hp1
NA19002.hp1
 intron_variant MODIFIER c.1142+18081G>A
c.1142+18081G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78867503
chr5:78867545 C
C
 A
A
 3 a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0001t0044g0091
 3 HG00741.hp1
HG01243.hp1
NA19030.hp1
HG00741.hp1
HG01243.hp1
NA19030.hp1
 intron_variant MODIFIER c.1142+18039G>T
c.1142+18039G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78867545
chr5:78867575 C
C
 T
T
 253 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(250): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0261
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0018g0130
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 254 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(251): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18993.hp2
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19062.hp2
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+18009G>A
c.1142+18009G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78867575
chr5:78867734 G
G
 A
A
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1142+17850C>T
c.1142+17850C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78867734
chr5:78867753 G
G
 A
A
 32 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(29): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0021t0003g0358
a0007c0012t0032g0180
 32 HG00544.hp2
HG00733.hp1
HG01069.hp1
others(29): Show 
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01981.hp1
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02258.hp2
HG02572.hp2
HG02647.hp1
HG02738.hp1
HG03041.hp1
HG03195.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1142+17831C>T
c.1142+17831C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78867753
chr5:78867774 C
C
 T
T
 1 a0001c0001t0010g0244
a0001c0001t0010g0244
 1 HG03654.hp2
HG03654.hp2
 intron_variant MODIFIER c.1142+17810G>A
c.1142+17810G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78867774
chr5:78867856 A
A
 C
C
 36 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(33): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0003c0004t0014g0164
a0006c0020t0003g0127
 36 HG00558.hp1
HG01261.hp2
HG01884.hp2
others(33): Show 
HG00558.hp1
HG01261.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01993.hp2
HG02135.hp1
HG03130.hp1
HG03491.hp2
HG03492.hp2
HG03654.hp2
HG04115.hp2
HG04199.hp2
NA18942.hp1
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18963.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19077.hp2
NA19088.hp2
NA19240.hp1
 intron_variant MODIFIER c.1142+17728T>G
c.1142+17728T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78867856
chr5:78867871 G
G
 A
A
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1142+17713C>T
c.1142+17713C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78867871
chr5:78867873 G
G
 A
A
 64 a0001c0001t0002g0039
a0001c0001t0005g0038
a0001c0001t0013g0329
others(61): Show 
a0001c0001t0002g0039
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
 64 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(61): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02523.hp1
HG02698.hp1
HG02896.hp1
HG03225.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+17711C>T
c.1142+17711C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78867873
chr5:78867897 G
G
 C
C
 64 a0001c0001t0002g0039
a0001c0001t0005g0038
a0001c0001t0013g0329
others(61): Show 
a0001c0001t0002g0039
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
 64 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(61): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02523.hp1
HG02698.hp1
HG02896.hp1
HG03225.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+17687C>G
c.1142+17687C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78867897
chr5:78867918 A
A
 T
T
 5 a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0001t0031g0324
others(2): Show 
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0001t0031g0324
a0001c0007t0004g0100
a0001c0007t0068g0111
 5 HG02976.hp2
HG03041.hp2
HG03130.hp2
others(2): Show 
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03516.hp2
HG03540.hp2
 intron_variant MODIFIER c.1142+17666T>A
c.1142+17666T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78867918
chr5:78868032 C
C
 T
T
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1142+17552G>A
c.1142+17552G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78868032
chr5:78868033 G
G
 C
C
 1 a0001c0003t0006g0267
a0001c0003t0006g0267
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.1142+17551C>G
c.1142+17551C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78868033
chr5:78868146 G
G
 T
T
 13 a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
others(10): Show 
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
 13 HG01891.hp1
HG02145.hp1
HG02572.hp1
others(10): Show 
HG01891.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.1142+17438C>A
c.1142+17438C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78868146
chr5:78868152 T
T
 G
G
 1 a0001c0007t0036g0259
a0001c0007t0036g0259
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.1142+17432A>C
c.1142+17432A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78868152
chr5:78868179 C
C
 T
T
 1 a0001c0001t0001g0110
a0001c0001t0001g0110
 1 NA19062.hp1
NA19062.hp1
 intron_variant MODIFIER c.1142+17405G>A
c.1142+17405G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78868179
chr5:78868207 C
C
 G
G
 19 a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0003t0002g0276
others(16): Show 
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0018g0057
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0022t0006g0359
a0003c0014t0015g0202
a0005c0016t0002g0237
 19 HG00323.hp2
HG01515.hp2
HG02040.hp2
others(16): Show 
HG00323.hp2
HG01515.hp2
HG02040.hp2
HG02055.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG03139.hp1
HG04115.hp1
NA18968.hp2
NA18994.hp1
NA19043.hp2
NA20129.hp2
 intron_variant MODIFIER c.1142+17377G>C
c.1142+17377G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78868207
chr5:78868228 C
C
 A
A
 1 a0002c0002t0006g0211
a0002c0002t0006g0211
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.1142+17356G>T
c.1142+17356G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78868228
chr5:78868304 AC
AC
 A
A
 3 a0002c0002t0003g0137
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0003g0137
a0002c0002t0009g0136
a0002c0002t0009g0138
 3 NA18979.hp1
NA19084.hp1
NA19085.hp2
NA18979.hp1
NA19084.hp1
NA19085.hp2
 intron_variant MODIFIER c.1142+17279delG
c.1142+17279delG
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78868304
chr5:78868309 G
G
 A
A
 2 a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0193
a0002c0002t0009g0194
 2 HG02004.hp1
HG02293.hp2
HG02004.hp1
HG02293.hp2
 intron_variant MODIFIER c.1142+17275C>T
c.1142+17275C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78868309
chr5:78868312 C
C
 T
T
 2 a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0193
a0002c0002t0009g0194
 2 HG02004.hp1
HG02293.hp2
HG02004.hp1
HG02293.hp2
 intron_variant MODIFIER c.1142+17272G>A
c.1142+17272G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78868312
chr5:78868410 G
G
 C
C
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1142+17174C>G
c.1142+17174C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78868410
chr5:78868419 C
C
 T
T
 13 a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
others(10): Show 
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
 13 HG01891.hp1
HG02145.hp1
HG02572.hp1
others(10): Show 
HG01891.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.1142+17165G>A
c.1142+17165G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78868419
chr5:78868456 T
T
 C
C
 212 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(209): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 213 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(210): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19077.hp2
NA19084.hp2
NA19085.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+17128A>G
c.1142+17128A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78868456
chr5:78868464 T
T
 C
C
 1 a0001c0009t0016g0272
a0001c0009t0016g0272
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.1142+17120A>G
c.1142+17120A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78868464
chr5:78868488 G
G
 A
A
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1142+17096C>T
c.1142+17096C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78868488
chr5:78868617 G
G
 A
A
 1 a0002c0002t0003g0306
a0002c0002t0003g0306
 1 NA18941.hp2
NA18941.hp2
 intron_variant MODIFIER c.1142+16967C>T
c.1142+16967C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78868617
chr5:78868635 C
C
 G
G
 1 a0001c0001t0003g0327
a0001c0001t0003g0327
 1 HG00621.hp2
HG00621.hp2
 intron_variant MODIFIER c.1142+16949G>C
c.1142+16949G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78868635
chr5:78868650 C
C
 A
A
 1 a0001c0001t0007g0115
a0001c0001t0007g0115
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.1142+16934G>T
c.1142+16934G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78868650
chr5:78868758 C
C
 T
T
 59 a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0003t0001g0047
others(56): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0021t0003g0358
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0007c0012t0032g0180
 60 HG00099.hp2
HG00280.hp2
HG00544.hp2
others(57): Show 
HG00099.hp2
HG00280.hp2
HG00544.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG01981.hp1
HG02056.hp2
HG02071.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02572.hp2
HG02602.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02738.hp1
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03195.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp1
HG03927.hp2
HG04204.hp2
NA18947.hp1
NA18960.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19043.hp1
NA19063.hp1
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1142+16826G>A
c.1142+16826G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78868758
chr5:78868845 A
A
 C
C
 41 a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
others(38): Show 
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0028g0051
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0022t0006g0359
a0003c0014t0015g0202
a0005c0016t0002g0237
 41 HG00323.hp2
HG01109.hp2
HG01243.hp2
others(38): Show 
HG00323.hp2
HG01109.hp2
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03139.hp1
HG03195.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG04115.hp1
NA18906.hp1
NA18906.hp2
NA19043.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.1142+16739T>G
c.1142+16739T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78868845
chr5:78868859 C
C
 A
A
 32 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(29): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0021t0003g0358
a0007c0012t0032g0180
 32 HG00544.hp2
HG00733.hp1
HG01069.hp1
others(29): Show 
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01981.hp1
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02258.hp2
HG02572.hp2
HG02647.hp1
HG02738.hp1
HG03041.hp1
HG03195.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1142+16725G>T
c.1142+16725G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78868859
chr5:78868865 G
G
 A
A
 1 a0001c0001t0007g0333
a0001c0001t0007g0333
 1 HG01943.hp2
HG01943.hp2
 intron_variant MODIFIER c.1142+16719C>T
c.1142+16719C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78868865
chr5:78868924 C
C
 T
T
 32 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(29): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0021t0003g0358
a0007c0012t0032g0180
 32 HG00544.hp2
HG00733.hp1
HG01069.hp1
others(29): Show 
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01981.hp1
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02258.hp2
HG02572.hp2
HG02647.hp1
HG02738.hp1
HG03041.hp1
HG03195.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1142+16660G>A
c.1142+16660G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78868924
chr5:78868935 A
A
 G
G
 64 a0001c0001t0002g0039
a0001c0001t0005g0038
a0001c0001t0013g0329
others(61): Show 
a0001c0001t0002g0039
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
 64 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(61): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02523.hp1
HG02698.hp1
HG02896.hp1
HG03225.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+16649T>C
c.1142+16649T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78868935
chr5:78868940 T
T
 C
C
 1 a0001c0003t0002g0320
a0001c0003t0002g0320
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.1142+16644A>G
c.1142+16644A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78868940
chr5:78868999 C
C
 T
T
 2 a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0016g0258
a0001c0003t0018g0260
 2 HG02818.hp2
HG03195.hp1
HG02818.hp2
HG03195.hp1
 intron_variant MODIFIER c.1142+16585G>A
c.1142+16585G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78868999
chr5:78869016 G
G
 C
C
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1142+16568C>G
c.1142+16568C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78869016
chr5:78869079 C
C
 A
A
 8 a0001c0001t0001g0315
a0001c0001t0002g0261
a0001c0001t0004g0009
others(5): Show 
a0001c0001t0001g0315
a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0006g0219
a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0001t0044g0091
a0002c0002t0008g0311
 8 HG00741.hp1
HG01243.hp1
HG02717.hp1
others(5): Show 
HG00741.hp1
HG01243.hp1
HG02717.hp1
HG03098.hp2
HG03209.hp2
NA18950.hp2
NA18986.hp2
NA19030.hp1
 intron_variant MODIFIER c.1142+16505G>T
c.1142+16505G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78869079
chr5:78869082 G
G
 C
C
 1 a0001c0001t0001g0315
a0001c0001t0001g0315
 1 NA18950.hp2
NA18950.hp2
 intron_variant MODIFIER c.1142+16502C>G
c.1142+16502C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78869082
chr5:78869133 C
C
 A
A
 37 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(34): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0003c0004t0014g0164
a0006c0020t0003g0127
 37 HG00438.hp2
HG00558.hp1
HG01261.hp2
others(34): Show 
HG00438.hp2
HG00558.hp1
HG01261.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01993.hp2
HG02135.hp1
HG03130.hp1
HG03491.hp2
HG03492.hp2
HG03654.hp2
HG04115.hp2
HG04199.hp2
NA18942.hp1
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18963.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19077.hp2
NA19088.hp2
NA19240.hp1
 intron_variant MODIFIER c.1142+16451G>T
c.1142+16451G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78869133
chr5:78869172 A
A
 G
G
 1 a0001c0001t0008g0286
a0001c0001t0008g0286
 1 HG02056.hp1
HG02056.hp1
 intron_variant MODIFIER c.1142+16412T>C
c.1142+16412T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78869172
chr5:78869198 C
C
 T
T
 12 a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
others(9): Show 
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0018g0057
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0022t0006g0359
a0005c0016t0002g0237
 12 HG02055.hp2
HG02258.hp1
HG02451.hp1
others(9): Show 
HG02055.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02723.hp1
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG03139.hp1
NA19043.hp2
NA20129.hp2
 intron_variant MODIFIER c.1142+16386G>A
c.1142+16386G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78869198
chr5:78869222 C
C
 T
T
 45 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(42): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0007c0012t0032g0180
 45 HG00544.hp2
HG00733.hp1
HG01069.hp1
others(42): Show 
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01891.hp1
HG01981.hp1
HG02056.hp2
HG02071.hp1
HG02145.hp1
HG02155.hp2
HG02258.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02717.hp2
HG02738.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03041.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03540.hp1
HG03927.hp1
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1142+16362G>A
c.1142+16362G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78869222
chr5:78869225 T
T
 C
C
 265 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(262): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0261
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0018g0130
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 266 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(263): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19062.hp2
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+16359A>G
c.1142+16359A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78869225
chr5:78869287 T
T
 G
G
 1 a0003c0004t0072g0323
a0003c0004t0072g0323
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.1142+16297A>C
c.1142+16297A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78869287
chr5:78869309 G
G
 A
A
 64 a0001c0001t0002g0039
a0001c0001t0005g0038
a0001c0001t0013g0329
others(61): Show 
a0001c0001t0002g0039
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
 64 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(61): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02523.hp1
HG02698.hp1
HG02896.hp1
HG03225.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+16275C>T
c.1142+16275C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78869309
chr5:78869331 A
A
 C
C
 13 a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
others(10): Show 
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
 13 HG01891.hp1
HG02145.hp1
HG02572.hp1
others(10): Show 
HG01891.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.1142+16253T>G
c.1142+16253T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78869331
chr5:78869502 A
A
 C
C
 1 a0001c0001t0031g0324
a0001c0001t0031g0324
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.1142+16082T>G
c.1142+16082T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78869502
chr5:78869507 T
T
 A
A
 1 a0001c0001t0031g0324
a0001c0001t0031g0324
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.1142+16077A>T
c.1142+16077A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78869507
chr5:78869518 G
G
 A
A
 1 a0001c0001t0031g0324
a0001c0001t0031g0324
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.1142+16066C>T
c.1142+16066C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78869518
chr5:78869520 C
C
 T
T
 1 a0001c0001t0031g0324
a0001c0001t0031g0324
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.1142+16064G>A
c.1142+16064G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78869520
chr5:78869538 C
C
 T
T
 1 a0001c0001t0001g0035
a0001c0001t0001g0035
 1 NA18957.hp1
NA18957.hp1
 intron_variant MODIFIER c.1142+16046G>A
c.1142+16046G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78869538
chr5:78869615 C
C
 T
T
 1 a0001c0001t0001g0024
a0001c0001t0001g0024
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.1142+15969G>A
c.1142+15969G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78869615
chr5:78869651 C
C
 T
T
 1 a0003c0004t0062g0133
a0003c0004t0062g0133
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.1142+15933G>A
c.1142+15933G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78869651
chr5:78869652 G
G
 A
A
 1 a0002c0002t0050g0008
a0002c0002t0050g0008
 1 HG00408.hp1
HG00408.hp1
 intron_variant MODIFIER c.1142+15932C>T
c.1142+15932C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78869652
chr5:78869673 G
G
 C
C
 64 a0001c0001t0002g0039
a0001c0001t0005g0038
a0001c0001t0013g0329
others(61): Show 
a0001c0001t0002g0039
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
 64 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(61): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02523.hp1
HG02698.hp1
HG02896.hp1
HG03225.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+15911C>G
c.1142+15911C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78869673
chr5:78869695 C
C
 T
T
 36 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(33): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0003c0004t0014g0164
a0006c0020t0003g0127
 36 HG00558.hp1
HG01261.hp2
HG01884.hp2
others(33): Show 
HG00558.hp1
HG01261.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01993.hp2
HG02135.hp1
HG03130.hp1
HG03491.hp2
HG03492.hp2
HG03654.hp2
HG04115.hp2
HG04199.hp2
NA18942.hp1
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18963.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19077.hp2
NA19088.hp2
NA19240.hp1
 intron_variant MODIFIER c.1142+15889G>A
c.1142+15889G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78869695
chr5:78869751 C
C
 G
G
 1 a0001c0001t0002g0277
a0001c0001t0002g0277
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.1142+15833G>C
c.1142+15833G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78869751
chr5:78869755 T
T
 G
G
 1 a0001c0001t0002g0277
a0001c0001t0002g0277
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.1142+15829A>C
c.1142+15829A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78869755
chr5:78869759 A
A
 G
G
 1 a0001c0001t0002g0277
a0001c0001t0002g0277
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.1142+15825T>C
c.1142+15825T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78869759
chr5:78869784 G
G
 A
A
 1 a0001c0001t0004g0278
a0001c0001t0004g0278
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.1142+15800C>T
c.1142+15800C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78869784
chr5:78869884 T
T
 G
G
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1142+15700A>C
c.1142+15700A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78869884
chr5:78869986 C
C
 T
T
 86 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(83): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0003c0014t0015g0202
a0005c0016t0002g0237
a0007c0012t0032g0180
 86 HG00323.hp2
HG00544.hp2
HG00733.hp1
others(83): Show 
HG00323.hp2
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01981.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02145.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03927.hp1
HG04115.hp1
HG04204.hp2
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19043.hp2
NA19063.hp1
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1142+15598G>A
c.1142+15598G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78869986
chr5:78869990 C
C
 T
T
 64 a0001c0001t0002g0039
a0001c0001t0005g0038
a0001c0001t0013g0329
others(61): Show 
a0001c0001t0002g0039
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
 64 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(61): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02523.hp1
HG02698.hp1
HG02896.hp1
HG03225.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+15594G>A
c.1142+15594G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78869990
chr5:78870048 A
A
 C
C
 1 a0001c0001t0014g0189
a0001c0001t0014g0189
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.1142+15536T>G
c.1142+15536T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78870048
chr5:78870083 C
C
 T
T
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1142+15501G>A
c.1142+15501G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78870083
chr5:78870091 A
A
 G
G
 3 a0002c0002t0006g0206
a0002c0002t0019g0303
a0002c0002t0030g0304
a0002c0002t0006g0206
a0002c0002t0019g0303
a0002c0002t0030g0304
 3 NA18949.hp2
NA18986.hp1
NA19068.hp2
NA18949.hp2
NA18986.hp1
NA19068.hp2
 intron_variant MODIFIER c.1142+15493T>C
c.1142+15493T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78870091
chr5:78870095 T
T
 C
C
 2 a0001c0003t0003g0334
a0001c0003t0022g0229
a0001c0003t0003g0334
a0001c0003t0022g0229
 2 NA19063.hp1
NA19085.hp1
NA19063.hp1
NA19085.hp1
 intron_variant MODIFIER c.1142+15489A>G
c.1142+15489A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78870095
chr5:78870124 A
A
 G
G
 86 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(83): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0003c0014t0015g0202
a0005c0016t0002g0237
a0007c0012t0032g0180
 86 HG00323.hp2
HG00544.hp2
HG00733.hp1
others(83): Show 
HG00323.hp2
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01243.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01981.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02145.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03927.hp1
HG04115.hp1
HG04204.hp2
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19043.hp2
NA19063.hp1
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1142+15460T>C
c.1142+15460T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78870124
chr5:78870145 C
C
 T
T
 2 a0002c0002t0023g0162
a0002c0002t0057g0284
a0002c0002t0023g0162
a0002c0002t0057g0284
 2 HG01175.hp2
NA20805.hp1
HG01175.hp2
NA20805.hp1
 intron_variant MODIFIER c.1142+15439G>A
c.1142+15439G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78870145
chr5:78870180 C
C
 G
G
 1 a0002c0002t0009g0067
a0002c0002t0009g0067
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.1142+15404G>C
c.1142+15404G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78870180
chr5:78870247 T
T
 C
C
 1 a0001c0001t0003g0021
a0001c0001t0003g0021
 1 NA18972.hp1
NA18972.hp1
 intron_variant MODIFIER c.1142+15337A>G
c.1142+15337A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78870247
chr5:78870254 A
A
 T
T
 45 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(42): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0007c0012t0032g0180
 45 HG00544.hp2
HG00733.hp1
HG01069.hp1
others(42): Show 
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01891.hp1
HG01981.hp1
HG02056.hp2
HG02071.hp1
HG02145.hp1
HG02155.hp2
HG02258.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02717.hp2
HG02738.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03041.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03540.hp1
HG03927.hp1
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1142+15330T>A
c.1142+15330T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78870254
chr5:78870291 A
A
 G
G
 213 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(210): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 214 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(211): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19077.hp2
NA19084.hp2
NA19085.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+15293T>C
c.1142+15293T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78870291
chr5:78870315 G
G
 A
A
 1 a0001c0001t0004g0009
a0001c0001t0004g0009
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.1142+15269C>T
c.1142+15269C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78870315
chr5:78870318 T
T
 G
G
 214 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(211): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 215 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(212): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19077.hp2
NA19084.hp2
NA19085.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+15266A>C
c.1142+15266A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78870318
chr5:78870329 C
C
 T
T
 213 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(210): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 214 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(211): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19077.hp2
NA19084.hp2
NA19085.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+15255G>A
c.1142+15255G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78870329
chr5:78870344 A
A
 G
G
 213 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(210): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 214 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(211): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19077.hp2
NA19084.hp2
NA19085.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+15240T>C
c.1142+15240T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78870344
chr5:78870385 C
C
 G
G
 1 a0001c0003t0002g0262
a0001c0003t0002g0262
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.1142+15199G>C
c.1142+15199G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78870385
chr5:78870433 A
A
 G
G
 91 a0001c0001t0002g0039
a0001c0001t0003g0214
a0001c0001t0004g0328
others(88): Show 
a0001c0001t0002g0039
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 92 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(89): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01517.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02523.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02886.hp2
HG02896.hp1
HG03017.hp1
HG03017.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp2
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18960.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19043.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+15151T>C
c.1142+15151T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78870433
chr5:78870501 T
T
 C
C
 12 a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
others(9): Show 
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
 12 HG01891.hp1
HG02145.hp1
HG02572.hp1
others(9): Show 
HG01891.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03209.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.1142+15083A>G
c.1142+15083A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78870501
chr5:78870503 C
C
 G
G
 1 a0001c0003t0007g0352
a0001c0003t0007g0352
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.1142+15081G>C
c.1142+15081G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78870503
chr5:78870580 T
T
 C
C
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1142+15004A>G
c.1142+15004A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78870580
chr5:78870607 T
T
 C
C
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1142+14977A>G
c.1142+14977A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78870607
chr5:78870650 T
T
 C
C
 4 a0001c0003t0002g0078
a0001c0005t0013g0004
a0001c0005t0017g0003
others(1): Show 
a0001c0003t0002g0078
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
 4 HG02055.hp1
HG02723.hp2
NA18906.hp2
others(1): Show 
HG02055.hp1
HG02723.hp2
NA18906.hp2
NA19240.hp2
 intron_variant MODIFIER c.1142+14934A>G
c.1142+14934A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78870650
chr5:78870742 T
T
 G
G
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1142+14842A>C
c.1142+14842A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78870742
chr5:78870845 T
T
 C
C
 17 a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
others(14): Show 
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0018g0057
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0022t0006g0359
a0003c0014t0015g0202
a0005c0016t0002g0237
 17 HG00323.hp2
HG01515.hp2
HG02040.hp2
others(14): Show 
HG00323.hp2
HG01515.hp2
HG02040.hp2
HG02055.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG03139.hp1
HG04115.hp1
NA19043.hp2
NA20129.hp2
 intron_variant MODIFIER c.1142+14739A>G
c.1142+14739A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78870845
chr5:78870920 T
T
 C
C
 17 a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
others(14): Show 
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0018g0057
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0022t0006g0359
a0003c0014t0015g0202
a0005c0016t0002g0237
 17 HG00323.hp2
HG01515.hp2
HG02040.hp2
others(14): Show 
HG00323.hp2
HG01515.hp2
HG02040.hp2
HG02055.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG03139.hp1
HG04115.hp1
NA19043.hp2
NA20129.hp2
 intron_variant MODIFIER c.1142+14664A>G
c.1142+14664A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78870920
chr5:78870972 G
G
 A
A
 64 a0001c0001t0002g0039
a0001c0001t0005g0038
a0001c0001t0013g0329
others(61): Show 
a0001c0001t0002g0039
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
 64 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(61): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02523.hp1
HG02698.hp1
HG02896.hp1
HG03225.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+14612C>T
c.1142+14612C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78870972
chr5:78871008 C
C
 T
T
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1142+14576G>A
c.1142+14576G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78871008
chr5:78871019 C
C
 T
T
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1142+14565G>A
c.1142+14565G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78871019
chr5:78871045 T
T
 C
C
 5 a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0001t0031g0324
others(2): Show 
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0001t0031g0324
a0001c0007t0004g0100
a0001c0007t0068g0111
 5 HG02976.hp2
HG03041.hp2
HG03130.hp2
others(2): Show 
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03516.hp2
HG03540.hp2
 intron_variant MODIFIER c.1142+14539A>G
c.1142+14539A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78871045
chr5:78871114 T
T
 G
G
 32 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(29): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0021t0003g0358
a0007c0012t0032g0180
 32 HG00544.hp2
HG00733.hp1
HG01069.hp1
others(29): Show 
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01981.hp1
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02258.hp2
HG02572.hp2
HG02647.hp1
HG02738.hp1
HG03041.hp1
HG03195.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1142+14470A>C
c.1142+14470A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78871114
chr5:78871154 G
G
 C
C
 23 a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
others(20): Show 
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0270
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0074g0073
a0001c0005t0075g0112
 23 HG01109.hp2
HG01243.hp2
HG01884.hp1
others(20): Show 
HG01109.hp2
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02109.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02976.hp1
HG03195.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA18906.hp1
NA18906.hp2
NA19240.hp2
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.1142+14430C>G
c.1142+14430C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78871154
chr5:78871221 G
G
 A
A
 2 a0001c0003t0012g0177
a0001c0003t0022g0178
a0001c0003t0012g0177
a0001c0003t0022g0178
 2 HG03225.hp2
HG03471.hp2
HG03225.hp2
HG03471.hp2
 intron_variant MODIFIER c.1142+14363C>T
c.1142+14363C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78871221
chr5:78871236 C
C
 T
T
 1 a0001c0001t0008g0279
a0001c0001t0008g0279
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1142+14348G>A
c.1142+14348G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78871236
chr5:78871270 C
C
 T
T
 1 a0001c0001t0001g0265
a0001c0001t0001g0265
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.1142+14314G>A
c.1142+14314G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78871270
chr5:78871319 C
C
 A
A
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01106.hp2
HG01106.hp2
 intron_variant MODIFIER c.1142+14265G>T
c.1142+14265G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78871319
chr5:78871327 T
T
 C
C
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1142+14257A>G
c.1142+14257A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78871327
chr5:78871378 AC
AC
 A
A
 3 a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
 3 HG01496.hp1
HG02896.hp1
HG03225.hp1
HG01496.hp1
HG02896.hp1
HG03225.hp1
 intron_variant MODIFIER c.1142+14205delG
c.1142+14205delG
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78871378
chr5:78871469 T
T
 C
C
 33 a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0003t0002g0013
others(30): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0003t0002g0013
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0012g0089
a0001c0003t0012g0350
a0001c0003t0027g0114
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 34 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(31): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp2
HG01070.hp1
HG01168.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02572.hp2
HG02602.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1142+14115A>G
c.1142+14115A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78871469
chr5:78871473 G
G
 A
A
 3 a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
 3 HG02055.hp1
NA18906.hp2
NA19240.hp2
HG02055.hp1
NA18906.hp2
NA19240.hp2
 intron_variant MODIFIER c.1142+14111C>T
c.1142+14111C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78871473
chr5:78871507 C
C
 T
T
 1 a0001c0001t0002g0143
a0001c0001t0002g0143
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.1142+14077G>A
c.1142+14077G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78871507
chr5:78871553 C
C
 T
T
 1 a0001c0001t0001g0084
a0001c0001t0001g0084
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.1142+14031G>A
c.1142+14031G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78871553
chr5:78871558 T
T
 A
A
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1142+14026A>T
c.1142+14026A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78871558
chr5:78871585 A
A
 C
C
 1 a0001c0001t0002g0317
a0001c0001t0002g0317
 1 NA18979.hp2
NA18979.hp2
 intron_variant MODIFIER c.1142+13999T>G
c.1142+13999T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78871585
chr5:78871609 C
C
 G
G
 1 a0001c0001t0004g0083
a0001c0001t0004g0083
 1 HG02523.hp2
HG02523.hp2
 intron_variant MODIFIER c.1142+13975G>C
c.1142+13975G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78871609
chr5:78871661 C
C
 T
T
 1 a0002c0002t0005g0325
a0002c0002t0005g0325
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.1142+13923G>A
c.1142+13923G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78871661
chr5:78871682 T
T
 C
C
 2 a0001c0001t0003g0140
a0001c0001t0004g0083
a0001c0001t0003g0140
a0001c0001t0004g0083
 2 HG02129.hp2
HG02523.hp2
HG02129.hp2
HG02523.hp2
 intron_variant MODIFIER c.1142+13902A>G
c.1142+13902A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78871682
chr5:78871745 C
C
 T
T
 45 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(42): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0007c0012t0032g0180
 45 HG00544.hp2
HG00733.hp1
HG01069.hp1
others(42): Show 
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01891.hp1
HG01981.hp1
HG02056.hp2
HG02071.hp1
HG02145.hp1
HG02155.hp2
HG02258.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02717.hp2
HG02738.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03041.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03540.hp1
HG03927.hp1
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1142+13839G>A
c.1142+13839G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78871745
chr5:78871747 T
T
 C
C
 1 a0003c0004t0004g0149
a0003c0004t0004g0149
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.1142+13837A>G
c.1142+13837A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78871747
chr5:78871771 C
C
 T
T
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1142+13813G>A
c.1142+13813G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78871771
chr5:78871804 A
A
 G
G
 65 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
others(62): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
 65 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(62): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02523.hp1
HG02698.hp1
HG02896.hp1
HG03225.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+13780T>C
c.1142+13780T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78871804
chr5:78871810 A
A
 T
T
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1142+13774T>A
c.1142+13774T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78871810
chr5:78871853 G
G
 A
A
 92 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
others(89): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 93 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(90): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01517.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02523.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02886.hp2
HG02896.hp1
HG03017.hp1
HG03017.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp2
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18960.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19043.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+13731C>T
c.1142+13731C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78871853
chr5:78871904 C
C
 T
T
 1 a0002c0002t0003g0246
a0002c0002t0003g0246
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.1142+13680G>A
c.1142+13680G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78871904
chr5:78871912 A
A
 G
G
 1 a0002c0002t0001g0310
a0002c0002t0001g0310
 1 HG02074.hp2
HG02074.hp2
 intron_variant MODIFIER c.1142+13672T>C
c.1142+13672T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78871912
chr5:78871916 A
A
 C
C
 23 a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
others(20): Show 
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0270
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0074g0073
a0001c0005t0075g0112
 23 HG01109.hp2
HG01243.hp2
HG01884.hp1
others(20): Show 
HG01109.hp2
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02109.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02976.hp1
HG03195.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA18906.hp1
NA18906.hp2
NA19240.hp2
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.1142+13668T>G
c.1142+13668T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78871916
chr5:78872001 C
C
 G
G
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1142+13583G>C
c.1142+13583G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78872001
chr5:78872041 T
T
 C
C
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1142+13543A>G
c.1142+13543A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78872041
chr5:78872072 C
C
 T
T
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1142+13512G>A
c.1142+13512G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78872072
chr5:78872139 C
C
 T
T
 2 a0001c0001t0004g0020
a0001c0001t0010g0018
a0001c0001t0004g0020
a0001c0001t0010g0018
 2 NA18941.hp1
NA19011.hp1
NA18941.hp1
NA19011.hp1
 intron_variant MODIFIER c.1142+13445G>A
c.1142+13445G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78872139
chr5:78872142 T
T
 C
C
 92 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
others(89): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 93 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(90): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01517.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02523.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02886.hp2
HG02896.hp1
HG03017.hp1
HG03017.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp2
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18960.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19043.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+13442A>G
c.1142+13442A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78872142
chr5:78872161 A
A
 G
G
 144 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(141): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0003g0021
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0141
a0001c0001t0011g0026
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0017t0002g0088
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0055g0094
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
 144 HG00140.hp1
HG00280.hp1
HG00323.hp1
others(141): Show 
HG00140.hp1
HG00280.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01175.hp1
HG01243.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01943.hp2
HG01952.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02280.hp2
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02683.hp2
HG02717.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03209.hp2
HG03453.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18957.hp1
NA18959.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18968.hp1
NA18968.hp2
NA18972.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA20300.hp2
NA20752.hp1
NA21309.hp1
 intron_variant MODIFIER c.1142+13423T>C
c.1142+13423T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78872161
chr5:78872193 C
C
 T
T
 92 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(89): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0003g0021
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0007g0181
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0141
a0001c0001t0011g0026
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0007t0036g0259
a0001c0007t0077g0070
a0001c0017t0002g0088
a0002c0002t0005g0192
a0002c0002t0055g0094
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
 92 HG00140.hp1
HG00280.hp1
HG00323.hp1
others(89): Show 
HG00140.hp1
HG00280.hp1
HG00323.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp1
HG00621.hp2
HG00738.hp1
HG01069.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01175.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01943.hp2
HG01952.hp1
HG01981.hp2
HG01993.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02280.hp2
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG02922.hp1
HG03098.hp1
HG03139.hp2
HG03453.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
NA18747.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18952.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp1
NA18962.hp2
NA18972.hp1
NA18978.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18992.hp2
NA18993.hp1
NA19001.hp2
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19088.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1142+13391G>A
c.1142+13391G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78872193
chr5:78872353 A
A
 G
G
 4 a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
others(1): Show 
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
 4 HG01884.hp2
HG01891.hp2
HG03130.hp1
others(1): Show 
HG01884.hp2
HG01891.hp2
HG03130.hp1
NA19240.hp1
 intron_variant MODIFIER c.1142+13231T>C
c.1142+13231T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78872353
chr5:78872379 T
T
 C
C
 32 a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0006g0356
others(29): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0001t0031g0324
a0001c0007t0004g0100
a0001c0007t0068g0111
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 33 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(30): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1142+13205A>G
c.1142+13205A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78872379
chr5:78872436 A
A
 G
G
 15 a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0002g0101
others(12): Show 
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0270
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0074g0073
 15 HG01109.hp2
HG01243.hp2
HG01884.hp1
others(12): Show 
HG01109.hp2
HG01243.hp2
HG01884.hp1
HG02109.hp1
HG02622.hp1
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA18906.hp1
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.1142+13148T>C
c.1142+13148T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78872436
chr5:78872443 T
T
 G
G
 144 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(141): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0003g0021
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0141
a0001c0001t0011g0026
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0017t0002g0088
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0055g0094
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
 144 HG00140.hp1
HG00280.hp1
HG00323.hp1
others(141): Show 
HG00140.hp1
HG00280.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01175.hp1
HG01243.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01943.hp2
HG01952.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02280.hp2
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02683.hp2
HG02717.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03209.hp2
HG03453.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18957.hp1
NA18959.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18968.hp1
NA18968.hp2
NA18972.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA20300.hp2
NA20752.hp1
NA21309.hp1
 intron_variant MODIFIER c.1142+13141A>C
c.1142+13141A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78872443
chr5:78872494 T
T
 G
G
 65 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
others(62): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
 65 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(62): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02523.hp1
HG02698.hp1
HG02896.hp1
HG03225.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+13090A>C
c.1142+13090A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78872494
chr5:78872513 G
G
 A
A
 2 a0001c0001t0001g0263
a0001c0001t0010g0264
a0001c0001t0001g0263
a0001c0001t0010g0264
 2 HG03491.hp2
HG03492.hp2
HG03491.hp2
HG03492.hp2
 intron_variant MODIFIER c.1142+13071C>T
c.1142+13071C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78872513
chr5:78872565 A
A
 G
G
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1142+13019T>C
c.1142+13019T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78872565
chr5:78872608 T
T
 C
C
 65 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
others(62): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
 65 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(62): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02523.hp1
HG02698.hp1
HG02896.hp1
HG03225.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+12976A>G
c.1142+12976A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78872608
chr5:78872685 G
G
 A
A
 180 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(177): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0055g0094
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0014g0164
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 180 HG00140.hp1
HG00280.hp1
HG00323.hp1
others(177): Show 
HG00140.hp1
HG00280.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01175.hp1
HG01243.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02155.hp1
HG02280.hp2
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02683.hp2
HG02717.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03209.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp1
NA21309.hp1
 intron_variant MODIFIER c.1142+12899C>T
c.1142+12899C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78872685
chr5:78872704 T
T
 C
C
 1 a0001c0001t0007g0115
a0001c0001t0007g0115
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.1142+12880A>G
c.1142+12880A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78872704
chr5:78872721 C
C
 T
T
 1 a0003c0004t0002g0243
a0003c0004t0002g0243
 1 HG00673.hp2
HG00673.hp2
 intron_variant MODIFIER c.1142+12863G>A
c.1142+12863G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78872721
chr5:78872815 T
T
 TA
TA
 8 a0001c0003t0006g0267
a0001c0003t0008g0116
a0001c0003t0031g0119
others(5): Show 
a0001c0003t0006g0267
a0001c0003t0008g0116
a0001c0003t0031g0119
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
 8 HG02145.hp1
HG02615.hp1
HG02615.hp2
others(5): Show 
HG02145.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02965.hp2
HG03209.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.1142+12768_1142+12
others(7): Show 
c.1142+12768_1142+12769insT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78872815
chr5:78872816 T
T
 A
A
 11 a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
others(8): Show 
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0008g0116
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
 11 HG02145.hp1
HG02572.hp1
HG02615.hp1
others(8): Show 
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03209.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.1142+12768A>T
c.1142+12768A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78872816
chr5:78872816 T
T
 TA
TA
 189 a0001c0001t0001g0023
a0001c0001t0001g0027
a0001c0001t0001g0031
others(186): Show 
a0001c0001t0001g0023
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0262
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0005g0060
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0055g0094
a0002c0010t0003g0161
a0002c0011t0053g0002
a0003c0004t0014g0164
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0007c0012t0032g0180
 189 HG00140.hp1
HG00280.hp1
HG00323.hp1
others(186): Show 
HG00140.hp1
HG00280.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00733.hp1
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01175.hp1
HG01243.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp2
HG02280.hp2
HG02451.hp2
HG02523.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18957.hp1
NA18959.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.1142+12767dupT
c.1142+12767dupT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78872816
chr5:78872816 T
T
 TAA
TAA
 28 a0001c0001t0001g0024
a0001c0001t0001g0289
a0001c0001t0007g0181
others(25): Show 
a0001c0001t0001g0024
a0001c0001t0001g0289
a0001c0001t0007g0181
a0001c0001t0040g0288
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0270
a0001c0003t0003g0334
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0074g0073
a0001c0005t0075g0112
 28 HG01109.hp2
HG01243.hp2
HG01884.hp1
others(25): Show 
HG01109.hp2
HG01243.hp2
HG01884.hp1
HG01952.hp1
HG02055.hp1
HG02109.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp2
HG02738.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02976.hp1
HG03195.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03654.hp1
HG03942.hp1
NA18906.hp1
NA18906.hp2
NA19085.hp1
NA19240.hp2
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.1142+12766_1142+12
others(8): Show 
c.1142+12766_1142+12767dupTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78872816
chr5:78872816 TA
TA
 T
T
 6 a0001c0001t0003g0034
a0001c0001t0011g0033
a0001c0001t0013g0329
others(3): Show 
a0001c0001t0003g0034
a0001c0001t0011g0033
a0001c0001t0013g0329
a0001c0003t0002g0269
a0002c0002t0006g0206
a0002c0002t0011g0234
 6 HG03041.hp1
NA18612.hp1
NA18953.hp2
others(3): Show 
HG03041.hp1
NA18612.hp1
NA18953.hp2
NA18954.hp2
NA18957.hp2
NA18986.hp1
 intron_variant MODIFIER c.1142+12767delT
c.1142+12767delT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78872816
chr5:78872817 A
A
 T
T
 62 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
others(59): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
 62 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(59): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02523.hp1
HG02698.hp1
HG02896.hp1
HG03225.hp1
HG03710.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+12767T>A
c.1142+12767T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78872817
chr5:78872818 A
A
 T
T
 3 a0001c0001t0013g0329
a0002c0002t0006g0206
a0002c0002t0011g0234
a0001c0001t0013g0329
a0002c0002t0006g0206
a0002c0002t0011g0234
 3 NA18612.hp1
NA18953.hp2
NA18986.hp1
NA18612.hp1
NA18953.hp2
NA18986.hp1
 intron_variant MODIFIER c.1142+12766T>A
c.1142+12766T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78872818
chr5:78872830 A
A
 AAAG
AAAG
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1142+12753_1142+12
others(9): Show 
c.1142+12753_1142+12754insCTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78872830
chr5:78872905 G
G
 A
A
 1 a0001c0007t0004g0100
a0001c0007t0004g0100
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.1142+12679C>T
c.1142+12679C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78872905
chr5:78872959 A
A
 G
G
 1 a0001c0003t0003g0334
a0001c0003t0003g0334
 1 NA19085.hp1
NA19085.hp1
 intron_variant MODIFIER c.1142+12625T>C
c.1142+12625T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78872959
chr5:78873290 T
T
 C
C
 5 a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0001t0031g0324
others(2): Show 
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0001t0031g0324
a0001c0007t0004g0100
a0001c0007t0068g0111
 5 HG02976.hp2
HG03041.hp2
HG03130.hp2
others(2): Show 
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03516.hp2
HG03540.hp2
 intron_variant MODIFIER c.1142+12294A>G
c.1142+12294A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78873290
chr5:78873498 A
A
 ATTTTTTT
ATTTTTTT
 81 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0031
others(78): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0003g0021
a0001c0001t0003g0034
a0001c0001t0003g0064
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0337
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0208
a0001c0001t0007g0181
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0141
a0001c0001t0011g0026
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0065g0017
a0001c0007t0077g0070
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0002c0002t0045g0302
a0002c0002t0055g0094
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
 81 HG00140.hp1
HG00280.hp1
HG00408.hp2
others(78): Show 
HG00140.hp1
HG00280.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp1
HG00738.hp1
HG01069.hp2
HG01071.hp2
HG01074.hp2
HG01167.hp1
HG01175.hp1
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01993.hp1
HG02027.hp2
HG02056.hp1
HG02080.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02280.hp2
HG02602.hp2
HG02622.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03130.hp1
HG03453.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04199.hp1
NA18747.hp2
NA18941.hp1
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18952.hp2
NA18953.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18961.hp1
NA18962.hp2
NA18972.hp1
NA18978.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18993.hp1
NA19001.hp2
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19030.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19088.hp1
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.1142+12079_1142+12
others(13): Show 
c.1142+12079_1142+12085dupAAAAAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78873498
chr5:78873498 A
A
 ATTTTTTT
others(1): Show 
ATTTTTTTT
 95 a0001c0001t0001g0027
a0001c0001t0001g0087
a0001c0001t0001g0135
others(92): Show 
a0001c0001t0001g0027
a0001c0001t0001g0087
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0001g0335
a0001c0001t0002g0092
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0261
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0063
a0001c0001t0003g0093
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0330
a0001c0001t0005g0195
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0002g0262
a0001c0003t0006g0274
a0001c0003t0069g0273
a0001c0007t0004g0100
a0001c0007t0068g0111
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0014g0164
a0006c0020t0003g0127
 95 HG00408.hp1
HG00544.hp1
HG00558.hp1
others(92): Show 
HG00408.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00621.hp2
HG00741.hp1
HG01106.hp2
HG01243.hp1
HG01261.hp2
HG01346.hp1
HG01515.hp1
HG01517.hp2
HG01943.hp1
HG01943.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02135.hp1
HG02451.hp2
HG02523.hp2
HG02683.hp2
HG02717.hp1
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03209.hp2
HG03491.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp2
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18942.hp1
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19002.hp1
NA19003.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19077.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp2
NA20300.hp2
NA20752.hp1
 intron_variant MODIFIER c.1142+12078_1142+12
others(14): Show 
c.1142+12078_1142+12085dupAAAAAAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78873498
chr5:78873498 A
A
 ATTTTTTT
others(2): Show 
ATTTTTTTTT
 63 a0001c0001t0002g0317
a0001c0001t0013g0227
a0001c0001t0013g0329
others(60): Show 
a0001c0001t0002g0317
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0022g0229
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0319
a0002c0002t0004g0079
a0002c0002t0004g0097
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0013g0216
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0086
a0002c0002t0030g0304
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0071g0280
a0002c0013t0017g0015
 63 HG00099.hp1
HG00140.hp2
HG00423.hp2
others(60): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01346.hp2
HG01496.hp1
HG01517.hp1
HG01891.hp1
HG01975.hp2
HG02004.hp1
HG02080.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02293.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02698.hp1
HG02717.hp2
HG02896.hp1
HG02965.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03486.hp1
HG03540.hp1
HG03710.hp1
HG03834.hp1
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18970.hp1
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18995.hp2
NA19002.hp2
NA19003.hp2
NA19063.hp1
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+12077_1142+12
others(15): Show 
c.1142+12077_1142+12085dupAAAAAAAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78873498
chr5:78873498 A
A
 ATTTTTTT
others(3): Show 
ATTTTTTTTTT
 45 a0001c0001t0002g0039
a0001c0001t0005g0038
a0001c0003t0001g0047
others(42): Show 
a0001c0001t0002g0039
a0001c0001t0005g0038
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0011
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0002c0002t0002g0055
a0002c0002t0003g0246
a0002c0002t0003g0306
a0002c0002t0004g0096
a0002c0002t0005g0042
a0002c0002t0005g0340
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0240
a0002c0002t0019g0248
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0033g0217
a0002c0002t0067g0203
a0003c0004t0002g0128
a0007c0012t0032g0180
 45 HG00423.hp1
HG00544.hp2
HG00673.hp1
others(42): Show 
HG00423.hp1
HG00544.hp2
HG00673.hp1
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01257.hp1
HG01361.hp1
HG01978.hp2
HG01981.hp1
HG02132.hp2
HG02155.hp2
HG02258.hp2
HG02523.hp1
HG02572.hp2
HG02647.hp1
HG02897.hp2
HG03041.hp1
HG03195.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA18612.hp1
NA18941.hp2
NA18947.hp1
NA18962.hp1
NA18969.hp1
NA18988.hp1
NA18989.hp2
NA18993.hp2
NA19001.hp1
NA19004.hp1
NA19010.hp1
NA19057.hp2
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1142+12076_1142+12
others(16): Show 
c.1142+12076_1142+12085dupAAAAAAAAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78873498
chr5:78873498 A
A
 ATTTTTTT
others(4): Show 
ATTTTTTTTTTT
 22 a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0002g0320
others(19): Show 
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0002g0320
a0001c0003t0003g0050
a0001c0003t0006g0254
a0001c0003t0007g0012
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0353
a0001c0005t0074g0073
a0001c0007t0036g0259
a0001c0021t0003g0358
a0002c0002t0003g0247
 22 HG01109.hp2
HG01884.hp1
HG02055.hp1
others(19): Show 
HG01109.hp2
HG01884.hp1
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02738.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG03195.hp1
HG03471.hp1
HG03486.hp2
HG03579.hp1
NA18906.hp1
NA18906.hp2
NA19000.hp1
NA19000.hp2
NA19240.hp2
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.1142+12075_1142+12
others(17): Show 
c.1142+12075_1142+12085dupAAAAAAAAAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78873498
chr5:78873498 A
A
 ATTTTTTT
others(5): Show 
ATTTTTTTTTTTT
 6 a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0253
others(3): Show 
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0270
a0001c0005t0017g0255
a0001c0005t0075g0112
 6 HG01243.hp2
HG02622.hp1
HG02647.hp2
others(3): Show 
HG01243.hp2
HG02622.hp1
HG02647.hp2
HG02723.hp2
HG02976.hp1
HG03516.hp1
 intron_variant MODIFIER c.1142+12074_1142+12
others(18): Show 
c.1142+12074_1142+12085dupAAAAAAAAAAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78873498
chr5:78873498 A
A
 ATTTTTTT
others(9): Show 
ATTTTTTTTTTTTTTTT
 1 a0003c0004t0023g0148
a0003c0004t0023g0148
 1 HG01070.hp1
HG01070.hp1
 intron_variant MODIFIER c.1142+12085_1142+12
others(22): Show 
c.1142+12085_1142+12086insAAAAAAAAAAAAAAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78873498
chr5:78873498 A
A
 ATTTTTTT
others(10): Show 
ATTTTTTTTTTTTTTTTT
 15 a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
others(12): Show 
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0007g0152
a0003c0004t0011g0007
a0003c0004t0023g0151
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
 16 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(13): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01952.hp2
HG02280.hp1
HG02293.hp1
HG02683.hp1
HG02886.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1142+12085_1142+12
others(23): Show 
c.1142+12085_1142+12086insAAAAAAAAAAAAAAAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78873498
chr5:78873498 A
A
 ATTTTTTT
others(11): Show 
ATTTTTTTTTTTTTTTTTT
 7 a0001c0001t0004g0328
a0003c0004t0001g0154
a0003c0004t0003g0095
others(4): Show 
a0001c0001t0004g0328
a0003c0004t0001g0154
a0003c0004t0003g0095
a0003c0004t0004g0150
a0003c0004t0007g0331
a0003c0004t0012g0123
a0003c0004t0072g0323
 7 HG01433.hp2
HG02145.hp2
HG02602.hp1
others(4): Show 
HG01433.hp2
HG02145.hp2
HG02602.hp1
HG03017.hp1
HG03017.hp2
HG03710.hp2
HG03927.hp2
 intron_variant MODIFIER c.1142+12085_1142+12
others(24): Show 
c.1142+12085_1142+12086insAAAAAAAAAAAAAAAAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78873498
chr5:78873498 A
A
 ATTTTTTT
others(12): Show 
ATTTTTTTTTTTTTTTTTTT
 4 a0001c0001t0003g0214
a0003c0004t0004g0149
a0003c0004t0029g0108
others(1): Show 
a0001c0001t0003g0214
a0003c0004t0004g0149
a0003c0004t0029g0108
a0003c0004t0029g0109
 4 HG02698.hp2
HG03490.hp2
HG03492.hp1
others(1): Show 
HG02698.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
 intron_variant MODIFIER c.1142+12085_1142+12
others(25): Show 
c.1142+12085_1142+12086insAAAAAAAAAAAAAAAAAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78873498
chr5:78873516 G
G
 A
A
 1 a0001c0003t0012g0089
a0001c0003t0012g0089
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.1142+12068C>T
c.1142+12068C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78873516
chr5:78873547 G
G
 C
C
 1 a0001c0003t0002g0262
a0001c0003t0002g0262
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.1142+12037C>G
c.1142+12037C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78873547
chr5:78873581 C
C
 T
T
 114 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(111): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0003g0021
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0007g0181
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0141
a0001c0001t0011g0026
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0007t0077g0070
a0001c0017t0002g0088
a0002c0002t0003g0225
a0002c0002t0005g0192
a0002c0002t0055g0094
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
 114 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(111): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01175.hp1
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01943.hp2
HG01952.hp1
HG01981.hp2
HG01993.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02280.hp1
HG02280.hp2
HG02523.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp2
HG02683.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03139.hp2
HG03453.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
NA18747.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18952.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18972.hp1
NA18978.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18992.hp2
NA18993.hp1
NA19001.hp2
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19088.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1142+12003G>A
c.1142+12003G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78873581
chr5:78873588 C
C
 T
T
 1 a0001c0003t0012g0232
a0001c0003t0012g0232
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.1142+11996G>A
c.1142+11996G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78873588
chr5:78873596 C
C
 T
T
 6 a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0006g0219
others(3): Show 
a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0006g0219
a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0001t0044g0091
 6 HG00741.hp1
HG01243.hp1
HG02717.hp1
others(3): Show 
HG00741.hp1
HG01243.hp1
HG02717.hp1
HG03098.hp2
HG03209.hp2
NA19030.hp1
 intron_variant MODIFIER c.1142+11988G>A
c.1142+11988G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78873596
chr5:78873620 C
C
 A
A
 8 a0001c0001t0002g0201
a0001c0001t0003g0293
a0001c0001t0004g0238
others(5): Show 
a0001c0001t0002g0201
a0001c0001t0003g0293
a0001c0001t0004g0238
a0001c0001t0005g0235
a0001c0001t0009g0226
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0051g0239
 8 HG00558.hp1
NA18953.hp1
NA18969.hp2
others(5): Show 
HG00558.hp1
NA18953.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
 intron_variant MODIFIER c.1142+11964G>T
c.1142+11964G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78873620
chr5:78873624 G
G
 T
T
 23 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0153
others(20): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 23 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(20): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01358.hp2
HG02145.hp2
HG02280.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1142+11960C>A
c.1142+11960C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78873624
chr5:78873640 C
C
 T
T
 2 a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0196
a0002c0002t0003g0197
 2 HG01070.hp2
HG01071.hp1
HG01070.hp2
HG01071.hp1
 intron_variant MODIFIER c.1142+11944G>A
c.1142+11944G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78873640
chr5:78873684 A
A
 C
C
 1 a0001c0001t0059g0332
a0001c0001t0059g0332
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.1142+11900T>G
c.1142+11900T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78873684
chr5:78873706 G
G
 A
A
 1 a0002c0002t0001g0345
a0002c0002t0001g0345
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.1142+11878C>T
c.1142+11878C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78873706
chr5:78873716 C
C
 T
T
 1 a0002c0002t0002g0056
a0002c0002t0002g0056
 1 NA18984.hp2
NA18984.hp2
 intron_variant MODIFIER c.1142+11868G>A
c.1142+11868G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78873716
chr5:78873775 G
G
 A
A
 4 a0001c0001t0004g0238
a0001c0001t0009g0226
a0001c0001t0013g0227
others(1): Show 
a0001c0001t0004g0238
a0001c0001t0009g0226
a0001c0001t0013g0227
a0001c0001t0051g0239
 4 NA18953.hp1
NA18969.hp2
NA18975.hp2
others(1): Show 
NA18953.hp1
NA18969.hp2
NA18975.hp2
NA18985.hp2
 intron_variant MODIFIER c.1142+11809C>T
c.1142+11809C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78873775
chr5:78873785 G
G
 A
A
 36 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(33): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0003c0004t0014g0164
a0006c0020t0003g0127
 36 HG00558.hp1
HG01261.hp2
HG01884.hp2
others(33): Show 
HG00558.hp1
HG01261.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01993.hp2
HG02135.hp1
HG03130.hp1
HG03491.hp2
HG03492.hp2
HG03654.hp2
HG04115.hp2
HG04199.hp2
NA18942.hp1
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18963.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19077.hp2
NA19088.hp2
NA19240.hp1
 intron_variant MODIFIER c.1142+11799C>T
c.1142+11799C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78873785
chr5:78874178 G
G
 T
T
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1142+11406C>A
c.1142+11406C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78874178
chr5:78874402 A
A
 G
G
 11 a0001c0001t0001g0134
a0001c0001t0002g0143
a0001c0001t0002g0200
others(8): Show 
a0001c0001t0001g0134
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0003g0140
a0001c0001t0003g0190
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0004g0083
a0001c0001t0005g0171
a0001c0001t0010g0141
a0001c0001t0020g0146
 11 HG00438.hp2
HG02129.hp2
HG02523.hp2
others(8): Show 
HG00438.hp2
HG02129.hp2
HG02523.hp2
NA18946.hp2
NA18948.hp2
NA18961.hp1
NA18984.hp1
NA19001.hp2
NA19063.hp2
NA19065.hp2
NA19088.hp1
 intron_variant MODIFIER c.1142+11182T>C
c.1142+11182T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78874402
chr5:78874456 G
G
 A
A
 1 a0001c0001t0002g0143
a0001c0001t0002g0143
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.1142+11128C>T
c.1142+11128C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78874456
chr5:78874705 T
T
 A
A
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1142+10879A>T
c.1142+10879A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78874705
chr5:78874789 A
A
 T
T
 178 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(175): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0055g0094
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0014g0164
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 178 HG00140.hp1
HG00280.hp1
HG00323.hp1
others(175): Show 
HG00140.hp1
HG00280.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01175.hp1
HG01243.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02155.hp1
HG02280.hp2
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02683.hp2
HG02717.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03209.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20752.hp1
NA21309.hp1
 intron_variant MODIFIER c.1142+10795T>A
c.1142+10795T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78874789
chr5:78874943 T
T
 C
C
 1 a0001c0001t0002g0005
a0001c0001t0002g0005
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.1142+10641A>G
c.1142+10641A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78874943
chr5:78875094 C
C
 A
A
 3 a0002c0002t0003g0137
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0003g0137
a0002c0002t0009g0136
a0002c0002t0009g0138
 3 NA18979.hp1
NA19084.hp1
NA19085.hp2
NA18979.hp1
NA19084.hp1
NA19085.hp2
 intron_variant MODIFIER c.1142+10490G>T
c.1142+10490G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78875094
chr5:78875146 C
C
 A
A
 341 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(338): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
a0007c0012t0032g0180
 342 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(339): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+10438G>T
c.1142+10438G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78875146
chr5:78875181 C
C
 A
A
 66 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
others(63): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
 66 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(63): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02523.hp1
HG02698.hp1
HG02896.hp1
HG03225.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+10403G>T
c.1142+10403G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78875181
chr5:78875329 C
C
 T
T
 1 a0001c0003t0009g0281
a0001c0003t0009g0281
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.1142+10255G>A
c.1142+10255G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78875329
chr5:78875369 A
A
 C
C
 6 a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0006g0219
others(3): Show 
a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0006g0219
a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0001t0044g0091
 6 HG00741.hp1
HG01243.hp1
HG02717.hp1
others(3): Show 
HG00741.hp1
HG01243.hp1
HG02717.hp1
HG03098.hp2
HG03209.hp2
NA19030.hp1
 intron_variant MODIFIER c.1142+10215T>G
c.1142+10215T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78875369
chr5:78875560 G
G
 A
A
 66 a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
others(63): Show 
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
 66 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(63): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02523.hp1
HG02698.hp1
HG02896.hp1
HG03225.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+10024C>T
c.1142+10024C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78875560
chr5:78875671 A
A
 AT
AT
 12 a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
others(9): Show 
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
 12 HG01891.hp1
HG02145.hp1
HG02572.hp1
others(9): Show 
HG01891.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.1142+9912dupA
c.1142+9912dupA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78875671
chr5:78875674 A
A
 AT
AT
 26 a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
others(23): Show 
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0270
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0007t0036g0259
a0002c0002t0002g0125
 26 HG01109.hp2
HG01243.hp2
HG01884.hp1
others(23): Show 
HG01109.hp2
HG01243.hp2
HG01884.hp1
HG02004.hp2
HG02055.hp1
HG02109.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG03195.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA18906.hp1
NA18906.hp2
NA19240.hp2
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.1142+9909dupA
c.1142+9909dupA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78875674
chr5:78875674 A
A
 T
T
 29 a0001c0001t0001g0031
a0001c0001t0001g0134
a0001c0001t0001g0168
others(26): Show 
a0001c0001t0001g0031
a0001c0001t0001g0134
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0289
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0005g0171
a0001c0001t0007g0181
a0001c0001t0040g0288
a0001c0003t0002g0262
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
 29 HG00438.hp2
HG01884.hp2
HG01891.hp1
others(26): Show 
HG00438.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02145.hp1
HG02451.hp2
HG02572.hp1
HG02615.hp1
HG02717.hp2
HG02738.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03540.hp1
HG03654.hp1
HG03942.hp1
NA18946.hp2
NA18948.hp2
NA18952.hp2
NA18983.hp1
NA18984.hp1
NA19001.hp2
NA19063.hp2
NA19077.hp1
NA19240.hp1
 intron_variant MODIFIER c.1142+9910T>A
c.1142+9910T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78875674
chr5:78875674 AT
AT
 A
A
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1142+9909delA
c.1142+9909delA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78875674
chr5:78875676 T
T
 A
A
 2 a0002c0002t0001g0231
a0002c0002t0005g0241
a0002c0002t0001g0231
a0002c0002t0005g0241
 2 NA18992.hp1
NA19065.hp1
NA18992.hp1
NA19065.hp1
 intron_variant MODIFIER c.1142+9908A>T
c.1142+9908A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78875676
chr5:78875677 T
T
 A
A
 57 a0001c0001t0002g0039
a0001c0001t0005g0038
a0001c0001t0013g0329
others(54): Show 
a0001c0001t0002g0039
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0186
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
 57 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(54): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02132.hp2
HG02293.hp2
HG02523.hp1
HG02698.hp1
HG02896.hp1
HG03225.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18986.hp1
NA18989.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+9907A>T
c.1142+9907A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78875677
chr5:78875699 G
G
 A
A
 1 a0001c0003t0012g0177
a0001c0003t0012g0177
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.1142+9885C>T
c.1142+9885C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78875699
chr5:78875736 C
C
 T
T
 13 a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
others(10): Show 
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
 13 HG01891.hp1
HG02145.hp1
HG02572.hp1
others(10): Show 
HG01891.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.1142+9848G>A
c.1142+9848G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78875736
chr5:78875914 T
T
 C
C
 2 a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0029g0108
a0003c0004t0029g0109
 2 HG03490.hp2
HG03492.hp1
HG03490.hp2
HG03492.hp1
 intron_variant MODIFIER c.1142+9670A>G
c.1142+9670A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78875914
chr5:78876067 T
T
 C
C
 24 a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
others(21): Show 
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0270
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0007t0036g0259
 24 HG01109.hp2
HG01243.hp2
HG01884.hp1
others(21): Show 
HG01109.hp2
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02109.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG03195.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA18906.hp1
NA18906.hp2
NA19240.hp2
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.1142+9517A>G
c.1142+9517A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78876067
chr5:78876120 G
G
 A
A
 1 a0001c0001t0001g0265
a0001c0001t0001g0265
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.1142+9464C>T
c.1142+9464C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78876120
chr5:78876179 G
G
 A
A
 317 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(314): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
a0007c0012t0032g0180
 318 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(315): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+9405C>T
c.1142+9405C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78876179
chr5:78876218 C
C
 T
T
 1 a0002c0002t0057g0284
a0002c0002t0057g0284
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.1142+9366G>A
c.1142+9366G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78876218
chr5:78876253 A
A
 G
G
 11 a0001c0001t0001g0134
a0001c0001t0002g0143
a0001c0001t0002g0200
others(8): Show 
a0001c0001t0001g0134
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0003g0140
a0001c0001t0003g0190
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0004g0083
a0001c0001t0005g0171
a0001c0001t0010g0141
a0001c0001t0020g0146
 11 HG00438.hp2
HG02129.hp2
HG02523.hp2
others(8): Show 
HG00438.hp2
HG02129.hp2
HG02523.hp2
NA18946.hp2
NA18948.hp2
NA18961.hp1
NA18984.hp1
NA19001.hp2
NA19063.hp2
NA19065.hp2
NA19088.hp1
 intron_variant MODIFIER c.1142+9331T>C
c.1142+9331T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78876253
chr5:78876628 G
G
 A
A
 1 a0002c0002t0008g0311
a0002c0002t0008g0311
 1 NA18986.hp2
NA18986.hp2
 intron_variant MODIFIER c.1142+8956C>T
c.1142+8956C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78876628
chr5:78876760 C
C
 T
T
 1 a0001c0001t0002g0092
a0001c0001t0002g0092
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.1142+8824G>A
c.1142+8824G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78876760
chr5:78876850 T
T
 C
C
 1 a0002c0002t0002g0055
a0002c0002t0002g0055
 1 NA18993.hp2
NA18993.hp2
 intron_variant MODIFIER c.1142+8734A>G
c.1142+8734A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78876850
chr5:78876876 C
C
 T
T
 15 a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0002g0101
others(12): Show 
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0270
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0074g0073
 15 HG01109.hp2
HG01243.hp2
HG01884.hp1
others(12): Show 
HG01109.hp2
HG01243.hp2
HG01884.hp1
HG02109.hp1
HG02622.hp1
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA18906.hp1
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.1142+8708G>A
c.1142+8708G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78876876
chr5:78877007 G
G
 C
C
 1 a0001c0001t0003g0093
a0001c0001t0003g0093
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.1142+8577C>G
c.1142+8577C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78877007
chr5:78877481 C
C
 T
T
 90 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(87): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0003g0021
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0007g0181
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0141
a0001c0001t0011g0026
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0007t0077g0070
a0001c0017t0002g0088
a0002c0002t0055g0094
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
 90 HG00140.hp1
HG00280.hp1
HG00323.hp1
others(87): Show 
HG00140.hp1
HG00280.hp1
HG00323.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp1
HG00621.hp2
HG00738.hp1
HG01069.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01175.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01943.hp2
HG01952.hp1
HG01981.hp2
HG01993.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02280.hp2
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03098.hp1
HG03139.hp2
HG03453.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
NA18747.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18952.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp1
NA18962.hp2
NA18972.hp1
NA18978.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18992.hp2
NA18993.hp1
NA19001.hp2
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19088.hp1
NA21309.hp1
 intron_variant MODIFIER c.1142+8103G>A
c.1142+8103G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78877481
chr5:78877491 C
C
 T
T
 65 a0001c0001t0002g0039
a0001c0001t0005g0038
a0001c0001t0013g0329
others(62): Show 
a0001c0001t0002g0039
a0001c0001t0005g0038
a0001c0001t0013g0329
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
 65 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(62): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02523.hp1
HG02698.hp1
HG02896.hp1
HG03225.hp1
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+8093G>A
c.1142+8093G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78877491
chr5:78877514 T
T
 G
G
 317 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(314): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
a0007c0012t0032g0180
 318 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(315): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+8070A>C
c.1142+8070A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78877514
chr5:78877618 A
A
 G
G
 98 a0001c0001t0002g0039
a0001c0001t0005g0038
a0001c0001t0013g0329
others(95): Show 
a0001c0001t0002g0039
a0001c0001t0005g0038
a0001c0001t0013g0329
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
a0007c0012t0032g0180
 98 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(95): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00741.hp2
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02056.hp2
HG02071.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02155.hp2
HG02258.hp2
HG02293.hp2
HG02523.hp1
HG02572.hp2
HG02647.hp1
HG02698.hp1
HG02738.hp1
HG02896.hp1
HG03041.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03710.hp1
HG03927.hp1
HG04204.hp2
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19084.hp2
NA19085.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+7966T>C
c.1142+7966T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78877618
chr5:78877650 A
A
 G
G
 21 a0001c0001t0003g0256
a0001c0001t0003g0257
a0002c0002t0001g0231
others(18): Show 
a0001c0001t0003g0256
a0001c0001t0003g0257
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0003g0225
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0045g0302
 21 HG00558.hp2
HG02074.hp2
NA18612.hp2
others(18): Show 
HG00558.hp2
HG02074.hp2
NA18612.hp2
NA18747.hp1
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18954.hp1
NA18961.hp2
NA18968.hp1
NA18968.hp2
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
 intron_variant MODIFIER c.1142+7934T>C
c.1142+7934T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78877650
chr5:78877956 G
G
 A
A
 10 a0001c0003t0001g0344
a0001c0003t0002g0160
a0001c0003t0002g0342
others(7): Show 
a0001c0003t0001g0344
a0001c0003t0002g0160
a0001c0003t0002g0342
a0001c0003t0007g0132
a0001c0003t0015g0346
a0001c0003t0025g0341
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0007c0012t0032g0180
 10 HG01069.hp1
HG01074.hp1
HG01167.hp2
others(7): Show 
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01192.hp1
HG01981.hp1
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1142+7628C>T
c.1142+7628C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78877956
chr5:78878073 A
A
 G
G
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1142+7511T>C
c.1142+7511T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78878073
chr5:78878089 A
A
 AT
AT
 34 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(31): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0003t0006g0254
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0003c0004t0014g0164
a0006c0020t0003g0127
 34 HG00558.hp1
HG01261.hp2
HG01884.hp2
others(31): Show 
HG00558.hp1
HG01261.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01993.hp2
HG02135.hp1
HG03130.hp1
HG03491.hp2
HG03492.hp2
HG03654.hp2
HG04115.hp2
HG04199.hp2
NA18942.hp1
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18963.hp1
NA18970.hp2
NA18972.hp2
NA18979.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19077.hp2
NA19088.hp2
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.1142+7494dupA
c.1142+7494dupA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78878089
chr5:78878326 G
G
 A
A
 5 a0002c0002t0002g0179
a0002c0002t0002g0314
a0002c0002t0003g0137
others(2): Show 
a0002c0002t0002g0179
a0002c0002t0002g0314
a0002c0002t0003g0137
a0002c0002t0009g0136
a0002c0002t0009g0138
 5 HG00544.hp1
HG02040.hp1
NA18979.hp1
others(2): Show 
HG00544.hp1
HG02040.hp1
NA18979.hp1
NA19084.hp1
NA19085.hp2
 intron_variant MODIFIER c.1142+7258C>T
c.1142+7258C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78878326
chr5:78878341 C
C
 T
T
 2 a0003c0004t0001g0154
a0003c0004t0007g0331
a0003c0004t0001g0154
a0003c0004t0007g0331
 2 HG02602.hp1
HG03927.hp2
HG02602.hp1
HG03927.hp2
 intron_variant MODIFIER c.1142+7243G>A
c.1142+7243G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78878341
chr5:78878412 T
T
 C
C
 1 a0006c0020t0003g0127
a0006c0020t0003g0127
 1 NA18950.hp1
NA18950.hp1
 intron_variant MODIFIER c.1142+7172A>G
c.1142+7172A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78878412
chr5:78878563 G
G
 GT
GT
 250 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(247): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0003g0021
a0001c0001t0003g0064
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0141
a0001c0001t0011g0026
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0017t0002g0088
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0002g0128
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0007c0012t0032g0180
 250 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(247): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp2
HG02280.hp2
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18954.hp1
NA18957.hp1
NA18959.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18972.hp1
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+7020dupA
c.1142+7020dupA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78878563
chr5:78878563 GT
GT
 G
G
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 28 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01952.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1142+7020delA
c.1142+7020delA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78878563
chr5:78878655 A
A
 G
G
 1 a0001c0001t0001g0134
a0001c0001t0001g0134
 1 NA18984.hp1
NA18984.hp1
 intron_variant MODIFIER c.1142+6929T>C
c.1142+6929T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78878655
chr5:78878749 T
T
 C
C
 1 a0001c0001t0001g0134
a0001c0001t0001g0134
 1 NA18984.hp1
NA18984.hp1
 intron_variant MODIFIER c.1142+6835A>G
c.1142+6835A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78878749
chr5:78878773 G
G
 T
T
 1 a0001c0001t0001g0144
a0001c0001t0001g0144
 1 NA18942.hp2
NA18942.hp2
 intron_variant MODIFIER c.1142+6811C>A
c.1142+6811C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78878773
chr5:78878794 C
C
 T
T
 1 a0001c0003t0022g0229
a0001c0003t0022g0229
 1 NA19063.hp1
NA19063.hp1
 intron_variant MODIFIER c.1142+6790G>A
c.1142+6790G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78878794
chr5:78878857 CT
CT
 C
C
 303 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(300): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
a0007c0012t0032g0180
 304 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(301): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+6726delA
c.1142+6726delA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78878857
chr5:78878900 C
C
 T
T
 5 a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
others(2): Show 
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0028g0348
a0001c0003t0069g0273
 5 HG01891.hp1
HG02572.hp1
HG02895.hp2
others(2): Show 
HG01891.hp1
HG02572.hp1
HG02895.hp2
HG02897.hp1
HG03453.hp1
 intron_variant MODIFIER c.1142+6684G>A
c.1142+6684G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78878900
chr5:78878950 C
C
 A
A
 1 a0002c0002t0014g0106
a0002c0002t0014g0106
 1 NA18978.hp1
NA18978.hp1
 intron_variant MODIFIER c.1142+6634G>T
c.1142+6634G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78878950
chr5:78879009 A
A
 G
G
 4 a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
others(1): Show 
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
 4 HG01884.hp2
HG01891.hp2
HG03130.hp1
others(1): Show 
HG01884.hp2
HG01891.hp2
HG03130.hp1
NA19240.hp1
 intron_variant MODIFIER c.1142+6575T>C
c.1142+6575T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78879009
chr5:78879050 C
C
 T
T
 10 a0001c0003t0001g0344
a0001c0003t0002g0160
a0001c0003t0002g0342
others(7): Show 
a0001c0003t0001g0344
a0001c0003t0002g0160
a0001c0003t0002g0342
a0001c0003t0007g0132
a0001c0003t0015g0346
a0001c0003t0025g0341
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0007c0012t0032g0180
 10 HG01069.hp1
HG01074.hp1
HG01167.hp2
others(7): Show 
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01192.hp1
HG01981.hp1
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1142+6534G>A
c.1142+6534G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78879050
chr5:78879051 G
G
 T
T
 2 a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0028g0051
a0001c0003t0048g0266
 2 HG03486.hp2
NA18906.hp1
HG03486.hp2
NA18906.hp1
 intron_variant MODIFIER c.1142+6533C>A
c.1142+6533C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78879051
chr5:78879064 G
G
 C
C
 169 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(166): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0003g0021
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0141
a0001c0001t0011g0026
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0017t0002g0088
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0055g0094
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
 170 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(167): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01175.hp1
HG01243.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02523.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03209.hp2
HG03453.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18957.hp1
NA18959.hp1
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18968.hp1
NA18968.hp2
NA18972.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA20752.hp1
NA21309.hp1
 intron_variant MODIFIER c.1142+6520C>G
c.1142+6520C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78879064
chr5:78879065 G
G
 A
A
 1 a0001c0001t0002g0277
a0001c0001t0002g0277
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.1142+6519C>T
c.1142+6519C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78879065
chr5:78879083 G
G
 C
C
 3 a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0007t0036g0259
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0007t0036g0259
 3 HG02818.hp2
HG02922.hp1
HG03195.hp1
HG02818.hp2
HG02922.hp1
HG03195.hp1
 intron_variant MODIFIER c.1142+6501C>G
c.1142+6501C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78879083
chr5:78879146 G
G
 A
A
 68 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(65): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0305
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0003g0021
a0001c0001t0003g0063
a0001c0001t0003g0140
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0004g0020
a0001c0001t0004g0083
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0195
a0001c0001t0007g0333
a0001c0001t0008g0036
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0223
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0141
a0001c0001t0011g0026
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0014g0189
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0059g0332
a0001c0001t0065g0017
a0002c0002t0055g0094
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
 68 HG00140.hp1
HG00280.hp1
HG00323.hp1
others(65): Show 
HG00140.hp1
HG00280.hp1
HG00323.hp1
HG00438.hp2
HG00609.hp1
HG00738.hp1
HG01069.hp2
HG01071.hp2
HG01175.hp1
HG01258.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01943.hp2
HG01952.hp1
HG01981.hp2
HG01993.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02129.hp2
HG02135.hp2
HG02523.hp2
HG02602.hp2
HG02735.hp1
HG03669.hp2
HG03834.hp2
HG04184.hp2
HG04199.hp1
NA18747.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18952.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp1
NA18962.hp2
NA18972.hp1
NA18978.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18992.hp2
NA18993.hp1
NA19001.hp2
NA19004.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19088.hp1
 intron_variant MODIFIER c.1142+6438C>T
c.1142+6438C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78879146
chr5:78879232 T
T
 C
C
 37 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(34): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0003c0004t0014g0164
a0006c0020t0003g0127
 37 HG00558.hp1
HG01261.hp2
HG01884.hp2
others(34): Show 
HG00558.hp1
HG01261.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01993.hp2
HG02135.hp1
HG03130.hp1
HG03491.hp2
HG03492.hp2
HG03654.hp2
HG04115.hp2
HG04199.hp2
NA18942.hp1
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18963.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18979.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19077.hp2
NA19088.hp2
NA19240.hp1
 intron_variant MODIFIER c.1142+6352A>G
c.1142+6352A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78879232
chr5:78879265 A
A
 G
G
 1 a0002c0002t0026g0176
a0002c0002t0026g0176
 1 HG01978.hp2
HG01978.hp2
 intron_variant MODIFIER c.1142+6319T>C
c.1142+6319T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78879265
chr5:78879322 G
G
 T
T
 267 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(264): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0003g0021
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0141
a0001c0001t0011g0026
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0017t0002g0088
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0007c0012t0032g0180
 268 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(265): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18954.hp1
NA18957.hp1
NA18959.hp1
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18972.hp1
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+6262C>A
c.1142+6262C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78879322
chr5:78879323 A
A
 T
T
 267 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(264): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0003g0021
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0141
a0001c0001t0011g0026
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0017t0002g0088
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0007c0012t0032g0180
 268 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(265): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18954.hp1
NA18957.hp1
NA18959.hp1
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18972.hp1
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+6261T>A
c.1142+6261T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78879323
chr5:78879374 C
C
 G
G
 304 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(301): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
a0007c0012t0032g0180
 305 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(302): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+6210G>C
c.1142+6210G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78879374
chr5:78879398 G
G
 A
A
 1 a0001c0001t0001g0035
a0001c0001t0001g0035
 1 NA18957.hp1
NA18957.hp1
 intron_variant MODIFIER c.1142+6186C>T
c.1142+6186C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78879398
chr5:78879407 C
C
 G
G
 98 a0001c0001t0002g0039
a0001c0001t0005g0038
a0001c0001t0013g0329
others(95): Show 
a0001c0001t0002g0039
a0001c0001t0005g0038
a0001c0001t0013g0329
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
a0007c0012t0032g0180
 98 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(95): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00741.hp2
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02056.hp2
HG02071.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02155.hp2
HG02258.hp2
HG02293.hp2
HG02523.hp1
HG02572.hp2
HG02647.hp1
HG02698.hp1
HG02738.hp1
HG02896.hp1
HG03041.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03710.hp1
HG03927.hp1
HG04204.hp2
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18953.hp2
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19084.hp2
NA19085.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+6177G>C
c.1142+6177G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78879407
chr5:78879537 T
T
 G
G
 1 a0001c0001t0010g0029
a0001c0001t0010g0029
 1 NA19057.hp1
NA19057.hp1
 intron_variant MODIFIER c.1142+6047A>C
c.1142+6047A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78879537
chr5:78879736 C
C
 T
T
 1 a0002c0002t0033g0217
a0002c0002t0033g0217
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.1142+5848G>A
c.1142+5848G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78879736
chr5:78879737 G
G
 A
A
 11 a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
others(8): Show 
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0022t0006g0359
a0005c0016t0002g0237
 11 HG02055.hp2
HG02258.hp1
HG02451.hp1
others(8): Show 
HG02055.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02723.hp1
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG03139.hp1
NA19043.hp2
 intron_variant MODIFIER c.1142+5847C>T
c.1142+5847C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78879737
chr5:78879788 A
A
 T
T
 1 a0001c0001t0001g0084
a0001c0001t0001g0084
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.1142+5796T>A
c.1142+5796T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78879788
chr5:78879890 T
T
 C
C
 1 a0001c0001t0037g0059
a0001c0001t0037g0059
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.1142+5694A>G
c.1142+5694A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78879890
chr5:78879979 T
T
 TA
TA
 13 a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
others(10): Show 
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
 13 HG01891.hp1
HG02145.hp1
HG02572.hp1
others(10): Show 
HG01891.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.1142+5604dupT
c.1142+5604dupT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78879979
chr5:78879979 TA
TA
 T
T
 304 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(301): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0254
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
a0007c0012t0032g0180
 305 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(302): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+5604delT
c.1142+5604delT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78879979
chr5:78880114 T
T
 C
C
 1 a0001c0003t0001g0326
a0001c0003t0001g0326
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.1142+5470A>G
c.1142+5470A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78880114
chr5:78880131 G
G
 A
A
 2 a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0076
a0001c0001t0005g0077
 2 HG01069.hp2
HG01071.hp2
HG01069.hp2
HG01071.hp2
 intron_variant MODIFIER c.1142+5453C>T
c.1142+5453C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78880131
chr5:78880149 G
G
 A
A
 2 a0002c0002t0002g0179
a0002c0002t0002g0314
a0002c0002t0002g0179
a0002c0002t0002g0314
 2 HG00544.hp1
HG02040.hp1
HG00544.hp1
HG02040.hp1
 intron_variant MODIFIER c.1142+5435C>T
c.1142+5435C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78880149
chr5:78880331 T
T
 C
C
 1 a0001c0001t0006g0356
a0001c0001t0006g0356
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1142+5253A>G
c.1142+5253A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78880331
chr5:78880501 C
C
 A
A
 13 a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
others(10): Show 
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
 13 HG01891.hp1
HG02145.hp1
HG02572.hp1
others(10): Show 
HG01891.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.1142+5083G>T
c.1142+5083G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78880501
chr5:78880615 A
A
 C
C
 40 a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
others(37): Show 
a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0007c0012t0032g0180
 40 HG00544.hp2
HG00733.hp1
HG01069.hp1
others(37): Show 
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01346.hp1
HG01884.hp2
HG01891.hp2
HG01943.hp2
HG01981.hp1
HG01981.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02155.hp2
HG02258.hp2
HG02572.hp2
HG02647.hp1
HG02738.hp1
HG03041.hp1
HG03130.hp1
HG03195.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
NA19240.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1142+4969T>G
c.1142+4969T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78880615
chr5:78880870 C
C
 A
A
 2 a0003c0004t0001g0153
a0003c0004t0001g0187
a0003c0004t0001g0153
a0003c0004t0001g0187
 2 HG00099.hp2
HG00280.hp2
HG00099.hp2
HG00280.hp2
 intron_variant MODIFIER c.1142+4714G>T
c.1142+4714G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78880870
chr5:78880871 T
T
 C
C
 30 a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
others(27): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
 31 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(28): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01952.hp2
HG01993.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02735.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1142+4713A>G
c.1142+4713A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78880871
chr5:78880898 G
G
 A
A
 101 a0001c0001t0004g0337
a0002c0002t0001g0054
a0002c0002t0001g0069
others(98): Show 
a0001c0001t0004g0337
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
 101 HG00099.hp1
HG00140.hp2
HG00408.hp1
others(98): Show 
HG00099.hp1
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02683.hp2
HG02698.hp1
HG02896.hp1
HG03225.hp1
HG03669.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp2
HG04184.hp1
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18961.hp2
NA18963.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18978.hp1
NA18979.hp1
NA18984.hp2
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18992.hp1
NA18993.hp2
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA20129.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+4686C>T
c.1142+4686C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78880898
chr5:78880900 C
C
 T
T
 40 a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
others(37): Show 
a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0007c0012t0032g0180
 40 HG00544.hp2
HG00733.hp1
HG01069.hp1
others(37): Show 
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01346.hp1
HG01884.hp2
HG01891.hp2
HG01943.hp2
HG01981.hp1
HG01981.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02155.hp2
HG02258.hp2
HG02572.hp2
HG02647.hp1
HG02738.hp1
HG03041.hp1
HG03130.hp1
HG03195.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
NA19240.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1142+4684G>A
c.1142+4684G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78880900
chr5:78880985 G
G
 T
T
 36 a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
others(33): Show 
a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0021t0003g0358
a0007c0012t0032g0180
 36 HG00544.hp2
HG00733.hp1
HG01069.hp1
others(33): Show 
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01346.hp1
HG01943.hp2
HG01981.hp1
HG01981.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02155.hp2
HG02258.hp2
HG02572.hp2
HG02647.hp1
HG02738.hp1
HG03041.hp1
HG03195.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1142+4599C>A
c.1142+4599C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78880985
chr5:78881146 C
C
 T
T
 2 a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0009t0016g0271
a0001c0009t0016g0272
 2 HG01891.hp2
NA19240.hp1
HG01891.hp2
NA19240.hp1
 intron_variant MODIFIER c.1142+4438G>A
c.1142+4438G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78881146
chr5:78881200 C
C
 A
A
 1 a0001c0003t0002g0262
a0001c0003t0002g0262
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.1142+4384G>T
c.1142+4384G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78881200
chr5:78881507 A
A
 G
G
 1 a0002c0002t0009g0067
a0002c0002t0009g0067
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.1142+4077T>C
c.1142+4077T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78881507
chr5:78881514 A
A
 G
G
 36 a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
others(33): Show 
a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0021t0003g0358
a0007c0012t0032g0180
 36 HG00544.hp2
HG00733.hp1
HG01069.hp1
others(33): Show 
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01346.hp1
HG01943.hp2
HG01981.hp1
HG01981.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02155.hp2
HG02258.hp2
HG02572.hp2
HG02647.hp1
HG02738.hp1
HG03041.hp1
HG03195.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1142+4070T>C
c.1142+4070T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78881514
chr5:78881527 G
G
 T
T
 343 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(340): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
a0007c0012t0032g0180
 344 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(341): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+4057C>A
c.1142+4057C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78881527
chr5:78881918 T
T
 C
C
 1 a0002c0002t0055g0094
a0002c0002t0055g0094
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.1142+3666A>G
c.1142+3666A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78881918
chr5:78881929 G
G
 A
A
 70 a0001c0001t0001g0335
a0001c0001t0003g0214
a0001c0001t0004g0328
others(67): Show 
a0001c0001t0001g0335
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0005g0195
a0001c0001t0007g0333
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0007c0012t0032g0180
 71 HG00099.hp2
HG00280.hp2
HG00544.hp2
others(68): Show 
HG00099.hp2
HG00280.hp2
HG00544.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp2
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02572.hp2
HG02602.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02735.hp2
HG02738.hp1
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp1
HG03927.hp2
HG04204.hp2
NA18947.hp1
NA18960.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19043.hp1
NA19063.hp1
NA19085.hp1
NA19240.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1142+3655C>T
c.1142+3655C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78881929
chr5:78881943 A
A
 C
C
 1 a0001c0001t0002g0092
a0001c0001t0002g0092
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.1142+3641T>G
c.1142+3641T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78881943
chr5:78881972 T
T
 C
C
 70 a0001c0001t0001g0335
a0001c0001t0003g0214
a0001c0001t0004g0328
others(67): Show 
a0001c0001t0001g0335
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0005g0195
a0001c0001t0007g0333
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0007c0012t0032g0180
 71 HG00099.hp2
HG00280.hp2
HG00544.hp2
others(68): Show 
HG00099.hp2
HG00280.hp2
HG00544.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp2
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02572.hp2
HG02602.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02735.hp2
HG02738.hp1
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp1
HG03927.hp2
HG04204.hp2
NA18947.hp1
NA18960.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19043.hp1
NA19063.hp1
NA19085.hp1
NA19240.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1142+3612A>G
c.1142+3612A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78881972
chr5:78882424 T
T
 C
C
 4 a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
others(1): Show 
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
 4 HG01884.hp2
HG01891.hp2
HG03130.hp1
others(1): Show 
HG01884.hp2
HG01891.hp2
HG03130.hp1
NA19240.hp1
 intron_variant MODIFIER c.1142+3160A>G
c.1142+3160A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78882424
chr5:78882501 C
C
 G
G
 70 a0001c0001t0001g0335
a0001c0001t0003g0214
a0001c0001t0004g0328
others(67): Show 
a0001c0001t0001g0335
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0005g0195
a0001c0001t0007g0333
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0007c0012t0032g0180
 71 HG00099.hp2
HG00280.hp2
HG00544.hp2
others(68): Show 
HG00099.hp2
HG00280.hp2
HG00544.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp2
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02572.hp2
HG02602.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02735.hp2
HG02738.hp1
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp1
HG03927.hp2
HG04204.hp2
NA18947.hp1
NA18960.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19043.hp1
NA19063.hp1
NA19085.hp1
NA19240.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1142+3083G>C
c.1142+3083G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78882501
chr5:78882595 T
T
 G
G
 7 a0001c0001t0003g0063
a0001c0001t0005g0075
a0001c0001t0005g0076
others(4): Show 
a0001c0001t0003g0063
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0011g0046
 7 HG00738.hp1
HG01069.hp2
HG01071.hp2
others(4): Show 
HG00738.hp1
HG01069.hp2
HG01071.hp2
HG01433.hp1
HG01993.hp1
HG04184.hp2
NA18947.hp2
 intron_variant MODIFIER c.1142+2989A>C
c.1142+2989A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78882595
chr5:78882597 C
C
 T
T
 1 a0003c0004t0004g0149
a0003c0004t0004g0149
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.1142+2987G>A
c.1142+2987G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78882597
chr5:78882775 A
A
 AT
AT
 27 a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0009t0016g0271
others(24): Show 
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0009t0016g0271
a0001c0018t0002g0016
a0001c0019t0022g0233
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0062g0133
a0003c0014t0015g0202
 28 HG00099.hp2
HG00280.hp2
HG00673.hp2
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00673.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01433.hp2
HG01884.hp2
HG01993.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02735.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03490.hp2
HG03492.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
NA19240.hp1
 intron_variant MODIFIER c.1142+2808dupA
c.1142+2808dupA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78882775
chr5:78882775 A
A
 ATT
ATT
 36 a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0181
others(33): Show 
a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0181
a0001c0001t0007g0333
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0013
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0009t0016g0272
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0023g0151
a0003c0004t0054g0142
a0003c0004t0072g0323
a0007c0012t0032g0180
 36 HG00544.hp2
HG00642.hp1
HG00733.hp1
others(33): Show 
HG00544.hp2
HG00642.hp1
HG00733.hp1
HG00738.hp2
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01346.hp1
HG01891.hp2
HG01943.hp2
HG01952.hp2
HG01981.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp2
HG02572.hp2
HG03041.hp1
HG03195.hp2
HG03225.hp2
HG03490.hp1
HG03491.hp1
HG03669.hp1
HG03927.hp1
HG03942.hp1
NA18962.hp1
NA18988.hp1
NA19010.hp1
NA19063.hp1
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1142+2807_1142+280
others(6): Show 
c.1142+2807_1142+2808dupAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78882775
chr5:78882775 A
A
 ATTT
ATTT
 8 a0001c0003t0001g0048
a0001c0003t0001g0344
a0001c0003t0002g0160
others(5): Show 
a0001c0003t0001g0048
a0001c0003t0001g0344
a0001c0003t0002g0160
a0001c0003t0003g0050
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0021t0003g0358
a0003c0004t0002g0128
 8 HG01361.hp1
HG01981.hp1
HG02647.hp1
others(5): Show 
HG01361.hp1
HG01981.hp1
HG02647.hp1
HG02738.hp1
HG03471.hp2
HG04204.hp2
NA18947.hp1
NA19000.hp2
 intron_variant MODIFIER c.1142+2806_1142+280
others(7): Show 
c.1142+2806_1142+2808dupAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78882775
chr5:78882775 AT
AT
 A
A
 33 a0001c0001t0001g0084
a0001c0001t0001g0110
a0001c0001t0001g0289
others(30): Show 
a0001c0001t0001g0084
a0001c0001t0001g0110
a0001c0001t0001g0289
a0001c0001t0002g0092
a0001c0001t0003g0307
a0001c0001t0008g0113
a0001c0003t0002g0101
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0005t0017g0255
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0074g0073
a0001c0005t0076g0268
a0001c0007t0077g0070
a0001c0015t0027g0102
a0002c0002t0003g0025
a0002c0002t0003g0247
a0002c0002t0004g0096
a0002c0002t0005g0325
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0063g0198
a0002c0002t0071g0280
a0002c0011t0053g0002
a0005c0016t0002g0237
 33 HG00438.hp1
HG01109.hp1
HG01109.hp2
others(30): Show 
HG00438.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01993.hp1
HG02027.hp2
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02723.hp1
HG02738.hp2
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG03139.hp1
HG03139.hp2
HG03516.hp1
HG03579.hp1
HG04184.hp1
NA18961.hp2
NA18968.hp1
NA18989.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19062.hp1
NA20300.hp1
 intron_variant MODIFIER c.1142+2808delA
c.1142+2808delA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78882775
chr5:78882775 ATT
ATT
 A
A
 178 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(175): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0087
a0001c0001t0001g0134
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0305
a0001c0001t0001g0321
a0001c0001t0002g0039
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0003g0021
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0327
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0208
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0065
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0029
a0001c0001t0010g0141
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0028
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0065g0017
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0253
a0001c0003t0002g0270
a0001c0003t0007g0012
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0353
a0001c0005t0075g0112
a0001c0017t0002g0088
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0013t0017g0015
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
 178 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(175): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02155.hp1
HG02280.hp2
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02976.hp1
HG03098.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp2
HG04184.hp2
HG04199.hp1
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18954.hp1
NA18957.hp1
NA18962.hp2
NA18963.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18972.hp1
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+2807_1142+280
others(6): Show 
c.1142+2807_1142+2808delAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78882775
chr5:78882775 ATTT
ATTT
 A
A
 26 a0001c0001t0004g0020
a0001c0001t0010g0018
a0001c0001t0013g0170
others(23): Show 
a0001c0001t0004g0020
a0001c0001t0010g0018
a0001c0001t0013g0170
a0001c0001t0020g0146
a0001c0001t0043g0090
a0001c0003t0002g0262
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0003g0306
 26 HG00741.hp1
HG01891.hp1
HG02145.hp1
others(23): Show 
HG00741.hp1
HG01891.hp1
HG02145.hp1
HG02451.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02818.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG03195.hp1
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03540.hp1
HG03540.hp2
NA18941.hp1
NA18941.hp2
NA18959.hp1
NA18961.hp1
NA19011.hp1
NA21309.hp2
 intron_variant MODIFIER c.1142+2806_1142+280
others(7): Show 
c.1142+2806_1142+2808delAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78882775
chr5:78882775 ATTTT
ATTTT
 A
A
 9 a0001c0001t0001g0144
a0001c0001t0002g0317
a0001c0001t0003g0019
others(6): Show 
a0001c0001t0001g0144
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0018g0130
a0001c0001t0031g0324
a0001c0001t0044g0091
a0001c0007t0068g0111
 9 HG02809.hp1
HG02976.hp2
HG03041.hp2
others(6): Show 
HG02809.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03516.hp2
NA18942.hp2
NA18979.hp2
NA19030.hp1
NA19088.hp2
 intron_variant MODIFIER c.1142+2805_1142+280
others(8): Show 
c.1142+2805_1142+2808delAAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78882775
chr5:78882775 ATTTTT
ATTTTT
 A
A
 36 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(33): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0005
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0261
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0007g0250
a0001c0001t0008g0040
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0018g0057
a0006c0020t0003g0127
 36 HG00558.hp1
HG01243.hp1
HG01261.hp2
others(33): Show 
HG00558.hp1
HG01243.hp1
HG01261.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02135.hp1
HG02717.hp1
HG03098.hp2
HG03209.hp2
HG03491.hp2
HG03492.hp2
HG04115.hp2
HG04199.hp2
NA18942.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18963.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19011.hp2
NA19077.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1142+2804_1142+280
others(9): Show 
c.1142+2804_1142+2808delAAAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78882775
chr5:78882806 C
C
 T
T
 37 a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0181
others(34): Show 
a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0181
a0001c0001t0007g0333
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0021t0003g0358
a0007c0012t0032g0180
 37 HG00544.hp2
HG00733.hp1
HG01069.hp1
others(34): Show 
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01346.hp1
HG01943.hp2
HG01981.hp1
HG01981.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02155.hp2
HG02258.hp2
HG02572.hp2
HG02647.hp1
HG02738.hp1
HG03041.hp1
HG03195.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03927.hp1
HG03942.hp1
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1142+2778G>A
c.1142+2778G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78882806
chr5:78882848 G
G
 A
A
 1 a0001c0001t0008g0279
a0001c0001t0008g0279
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1142+2736C>T
c.1142+2736C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78882848
chr5:78883036 A
A
 G
G
 306 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(303): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0254
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
a0007c0012t0032g0180
 307 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(304): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+2548T>C
c.1142+2548T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78883036
chr5:78883047 G
G
 C
C
 40 a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
others(37): Show 
a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0007c0012t0032g0180
 40 HG00544.hp2
HG00733.hp1
HG01069.hp1
others(37): Show 
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01346.hp1
HG01884.hp2
HG01891.hp2
HG01943.hp2
HG01981.hp1
HG01981.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02155.hp2
HG02258.hp2
HG02572.hp2
HG02647.hp1
HG02738.hp1
HG03041.hp1
HG03130.hp1
HG03195.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
NA19240.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1142+2537C>G
c.1142+2537C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78883047
chr5:78883075 C
C
 T
T
 4 a0002c0002t0001g0054
a0002c0002t0002g0056
a0002c0002t0002g0085
others(1): Show 
a0002c0002t0001g0054
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0042g0224
 4 HG00423.hp2
HG00609.hp2
NA18963.hp2
others(1): Show 
HG00423.hp2
HG00609.hp2
NA18963.hp2
NA18984.hp2
 intron_variant MODIFIER c.1142+2509G>A
c.1142+2509G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78883075
chr5:78883140 G
G
 A
A
 306 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(303): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0254
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
a0007c0012t0032g0180
 307 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(304): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+2444C>T
c.1142+2444C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78883140
chr5:78883246 C
C
 A
A
 53 a0001c0001t0001g0335
a0001c0001t0003g0214
a0001c0001t0004g0328
others(50): Show 
a0001c0001t0001g0335
a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0005g0195
a0001c0001t0007g0333
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0012g0177
a0001c0003t0014g0220
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0060g0210
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
 54 HG00099.hp2
HG00280.hp2
HG00544.hp2
others(51): Show 
HG00099.hp2
HG00280.hp2
HG00544.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp2
HG01952.hp2
HG01981.hp2
HG01993.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02145.hp2
HG02155.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02735.hp2
HG02738.hp1
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18947.hp1
NA18960.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19043.hp1
NA19063.hp1
NA19085.hp1
NA19240.hp1
 intron_variant MODIFIER c.1142+2338G>T
c.1142+2338G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78883246
chr5:78883480 A
A
 G
G
 2 a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0004g0096
a0002c0002t0004g0097
 2 NA18951.hp2
NA19001.hp1
NA18951.hp2
NA19001.hp1
 intron_variant MODIFIER c.1142+2104T>C
c.1142+2104T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78883480
chr5:78883542 T
T
 C
C
 337 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(334): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
 338 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(335): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+2042A>G
c.1142+2042A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78883542
chr5:78883705 C
C
 G
G
 266 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(263): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0065g0017
a0001c0003t0006g0254
a0001c0003t0018g0057
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0017t0002g0088
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 267 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(264): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+1879G>C
c.1142+1879G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78883705
chr5:78883781 C
C
 T
T
 28 a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
others(25): Show 
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
 29 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(26): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01952.hp2
HG01993.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02735.hp2
HG02886.hp2
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.1142+1803G>A
c.1142+1803G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78883781
chr5:78883919 G
G
 A
A
 100 a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
others(97): Show 
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
 100 HG00099.hp1
HG00140.hp2
HG00408.hp1
others(97): Show 
HG00099.hp1
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02683.hp2
HG02698.hp1
HG02896.hp1
HG03225.hp1
HG03669.hp2
HG03710.hp1
HG03834.hp1
HG03942.hp2
HG04184.hp1
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18961.hp2
NA18963.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18978.hp1
NA18979.hp1
NA18984.hp2
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18992.hp1
NA18993.hp2
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA20129.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+1665C>T
c.1142+1665C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78883919
chr5:78884368 T
T
 TAC
TAC
 108 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(105): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0321
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0003g0021
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0172
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0141
a0001c0001t0011g0026
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0065g0017
a0001c0003t0002g0276
a0001c0003t0006g0103
a0001c0003t0006g0254
a0001c0003t0018g0057
a0001c0003t0034g0071
a0001c0005t0032g0117
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0022t0006g0359
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
 108 HG00140.hp1
HG00280.hp1
HG00323.hp1
others(105): Show 
HG00140.hp1
HG00280.hp1
HG00323.hp1
HG00408.hp2
HG00423.hp1
HG00609.hp1
HG00621.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01175.hp1
HG01243.hp1
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01952.hp1
HG01993.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02280.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp2
HG02698.hp2
HG02717.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03453.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03834.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
NA18747.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18952.hp2
NA18953.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp1
NA18962.hp2
NA18968.hp2
NA18972.hp1
NA18978.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA19001.hp2
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19088.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.1142+1214_1142+121
others(6): Show 
c.1142+1214_1142+1215dupGT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78884368
chr5:78884368 T
T
 TACAC
TACAC
 37 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(34): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0005
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0005t0035g0165
a0006c0020t0003g0127
 37 HG00438.hp2
HG00558.hp1
HG01261.hp2
others(34): Show 
HG00438.hp2
HG00558.hp1
HG01261.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02135.hp1
HG02559.hp2
HG03491.hp2
HG03492.hp2
HG03654.hp2
HG04115.hp2
HG04199.hp2
NA18942.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18963.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18979.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19011.hp2
NA19077.hp2
NA19088.hp2
NA21309.hp1
 intron_variant MODIFIER c.1142+1212_1142+121
others(8): Show 
c.1142+1212_1142+1215dupGTGT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78884368
chr5:78884489 G
G
 A
A
 289 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(286): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0254
a0001c0003t0012g0177
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0060g0210
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 290 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(287): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+1095C>T
c.1142+1095C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78884489
chr5:78884547 T
T
 TC
TC
 47 a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
others(44): Show 
a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0012g0177
a0001c0003t0014g0220
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0060g0210
a0001c0021t0003g0358
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
 48 HG00099.hp2
HG00280.hp2
HG00544.hp2
others(45): Show 
HG00099.hp2
HG00280.hp2
HG00544.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01943.hp2
HG01952.hp2
HG01981.hp2
HG01993.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02145.hp2
HG02155.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02735.hp2
HG02738.hp1
HG02886.hp2
HG03017.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18947.hp1
NA18960.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19043.hp1
NA19063.hp1
NA19085.hp1
 intron_variant MODIFIER c.1142+1036dupG
c.1142+1036dupG
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78884547
chr5:78884606 C
C
 G
G
 1 a0001c0003t0018g0260
a0001c0003t0018g0260
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.1142+978G>C
c.1142+978G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78884606
chr5:78884659 C
C
 T
T
 238 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(235): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0065g0017
a0001c0003t0006g0254
a0001c0003t0018g0057
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0017t0002g0088
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 238 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(235): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01943.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02155.hp1
HG02280.hp2
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+925G>A
c.1142+925G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78884659
chr5:78884722 T
T
 C
C
 1 a0001c0001t0002g0218
a0001c0001t0002g0218
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1142+862A>G
c.1142+862A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78884722
chr5:78884775 CAA
CAA
 C
C
 13 a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
others(10): Show 
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
 13 HG01891.hp1
HG02145.hp1
HG02572.hp1
others(10): Show 
HG01891.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.1142+807_1142+808d
others(4): Show 
c.1142+807_1142+808delTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78884775
chr5:78884899 T
T
 C
C
 3 a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0007t0036g0259
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0007t0036g0259
 3 HG02818.hp2
HG02922.hp1
HG03195.hp1
HG02818.hp2
HG02922.hp1
HG03195.hp1
 intron_variant MODIFIER c.1142+685A>G
c.1142+685A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78884899
chr5:78884913 T
T
 C
C
 138 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(135): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0065g0017
a0001c0003t0006g0254
a0001c0003t0018g0057
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0017t0002g0088
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 138 HG00140.hp1
HG00280.hp1
HG00323.hp1
others(135): Show 
HG00140.hp1
HG00280.hp1
HG00323.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01175.hp1
HG01243.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01943.hp1
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01993.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02155.hp1
HG02280.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02698.hp2
HG02717.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03209.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
NA18747.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA19001.hp2
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1142+671A>G
c.1142+671A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78884913
chr5:78885093 T
T
 A
A
 1 a0002c0002t0045g0302
a0002c0002t0045g0302
 1 NA18946.hp1
NA18946.hp1
 intron_variant MODIFIER c.1142+491A>T
c.1142+491A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78885093
chr5:78885172 G
G
 C
C
 4 a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
others(1): Show 
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
 4 HG01884.hp2
HG01891.hp2
HG03130.hp1
others(1): Show 
HG01884.hp2
HG01891.hp2
HG03130.hp1
NA19240.hp1
 intron_variant MODIFIER c.1142+412C>G
c.1142+412C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78885172
chr5:78885181 T
T
 G
G
 2 a0001c0001t0001g0134
a0001c0001t0002g0200
a0001c0001t0001g0134
a0001c0001t0002g0200
 2 NA18984.hp1
NA19063.hp2
NA18984.hp1
NA19063.hp2
 intron_variant MODIFIER c.1142+403A>C
c.1142+403A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78885181
chr5:78885227 G
G
 A
A
 1 a0001c0001t0001g0027
a0001c0001t0001g0027
 1 NA18992.hp2
NA18992.hp2
 intron_variant MODIFIER c.1142+357C>T
c.1142+357C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78885227
chr5:78885351 G
G
 A
A
 236 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(233): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0065g0017
a0001c0003t0006g0254
a0001c0003t0018g0057
a0001c0007t0004g0100
a0001c0007t0077g0070
a0001c0017t0002g0088
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0004g0149
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 236 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(233): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01943.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02155.hp1
HG02280.hp2
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+233C>T
c.1142+233C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78885351
chr5:78885371 G
G
 A
A
 17 a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
others(14): Show 
a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0014g0220
a0001c0003t0022g0229
a0001c0003t0060g0210
a0001c0021t0003g0358
 17 HG00544.hp2
HG01346.hp1
HG01943.hp2
others(14): Show 
HG00544.hp2
HG01346.hp1
HG01943.hp2
HG01981.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02155.hp2
HG02738.hp1
HG03490.hp1
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
 intron_variant MODIFIER c.1142+213C>T
c.1142+213C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78885371
chr5:78885446 G
G
 A
A
 17 a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
others(14): Show 
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0350
a0001c0003t0015g0346
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0007c0012t0032g0180
 17 HG00733.hp1
HG01069.hp1
HG01074.hp1
others(14): Show 
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01981.hp1
HG02258.hp2
HG02572.hp2
HG02647.hp1
HG03041.hp1
HG03195.hp2
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1142+138C>T
c.1142+138C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 5/7 chr5 78885446
chr5:78885915 T
T
 C
C
 1 a0001c0005t0074g0073
a0001c0005t0074g0073
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.899-88A>G
c.899-88A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78885915
chr5:78886027 T
T
 C
C
 189 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(186): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0254
a0001c0003t0012g0177
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0060g0210
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 190 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(187): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01175.hp1
HG01243.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
NA18747.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19085.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.899-200A>G
c.899-200A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78886027
chr5:78886160 G
G
 A
A
 1 a0001c0003t0002g0262
a0001c0003t0002g0262
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.899-333C>T
c.899-333C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78886160
chr5:78886197 C
C
 T
T
 4 a0003c0004t0001g0153
a0003c0004t0001g0187
a0003c0004t0003g0283
others(1): Show 
a0003c0004t0001g0153
a0003c0004t0001g0187
a0003c0004t0003g0283
a0003c0004t0033g0282
 4 HG00099.hp2
HG00280.hp2
HG01255.hp2
others(1): Show 
HG00099.hp2
HG00280.hp2
HG01255.hp2
HG01358.hp2
 intron_variant MODIFIER c.899-370G>A
c.899-370G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78886197
chr5:78886254 G
G
 A
A
 2 a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0003t0073g0099
a0001c0005t0036g0275
 2 HG02615.hp2
HG03540.hp1
HG02615.hp2
HG03540.hp1
 intron_variant MODIFIER c.899-427C>T
c.899-427C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78886254
chr5:78886516 T
T
 A
A
 51 a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
others(48): Show 
a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0012g0177
a0001c0003t0014g0220
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0060g0210
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
 52 HG00099.hp2
HG00280.hp2
HG00544.hp2
others(49): Show 
HG00099.hp2
HG00280.hp2
HG00544.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp2
HG01952.hp2
HG01981.hp2
HG01993.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02145.hp2
HG02155.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02735.hp2
HG02738.hp1
HG02886.hp2
HG03017.hp2
HG03130.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18947.hp1
NA18960.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19043.hp1
NA19063.hp1
NA19085.hp1
NA19240.hp1
 intron_variant MODIFIER c.899-689A>T
c.899-689A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78886516
chr5:78886608 A
A
 G
G
 51 a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
others(48): Show 
a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0012g0177
a0001c0003t0014g0220
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0060g0210
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
 52 HG00099.hp2
HG00280.hp2
HG00544.hp2
others(49): Show 
HG00099.hp2
HG00280.hp2
HG00544.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp2
HG01952.hp2
HG01981.hp2
HG01993.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02145.hp2
HG02155.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02735.hp2
HG02738.hp1
HG02886.hp2
HG03017.hp2
HG03130.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18947.hp1
NA18960.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19043.hp1
NA19063.hp1
NA19085.hp1
NA19240.hp1
 intron_variant MODIFIER c.899-781T>C
c.899-781T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78886608
chr5:78886641 A
A
 G
G
 1 a0001c0001t0002g0277
a0001c0001t0002g0277
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.899-814T>C
c.899-814T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78886641
chr5:78886768 T
T
 A
A
 1 a0004c0006t0024g0061
a0004c0006t0024g0061
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.899-941A>T
c.899-941A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78886768
chr5:78886768 TA
TA
 T
T
 24 a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
others(21): Show 
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0007t0036g0259
 24 HG01109.hp2
HG01243.hp2
HG01884.hp1
others(21): Show 
HG01109.hp2
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02109.hp1
HG02451.hp2
HG02622.hp1
HG02647.hp2
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG03195.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA18906.hp1
NA18906.hp2
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.899-942delT
c.899-942delT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78886768
chr5:78886819 A
A
 G
G
 2 a0001c0001t0001g0023
a0001c0001t0001g0062
a0001c0001t0001g0023
a0001c0001t0001g0062
 2 HG02080.hp2
NA19004.hp2
HG02080.hp2
NA19004.hp2
 intron_variant MODIFIER c.899-992T>C
c.899-992T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78886819
chr5:78886834 T
T
 C
C
 1 a0001c0001t0005g0171
a0001c0001t0005g0171
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.899-1007A>G
c.899-1007A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78886834
chr5:78886883 C
C
 T
T
 2 a0002c0002t0003g0319
a0002c0002t0005g0318
a0002c0002t0003g0319
a0002c0002t0005g0318
 2 HG00621.hp1
NA18948.hp1
HG00621.hp1
NA18948.hp1
 intron_variant MODIFIER c.899-1056G>A
c.899-1056G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78886883
chr5:78887170 C
C
 A
A
 1 a0002c0002t0050g0008
a0002c0002t0050g0008
 1 HG00408.hp1
HG00408.hp1
 intron_variant MODIFIER c.899-1343G>T
c.899-1343G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78887170
chr5:78887199 G
G
 A
A
 1 a0002c0002t0064g0285
a0002c0002t0064g0285
 1 HG01192.hp2
HG01192.hp2
 intron_variant MODIFIER c.899-1372C>T
c.899-1372C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78887199
chr5:78887214 CA
CA
 C
C
 19 a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
others(16): Show 
a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0012g0177
a0001c0003t0014g0220
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0060g0210
a0001c0021t0003g0358
 19 HG00544.hp2
HG01346.hp1
HG01943.hp2
others(16): Show 
HG00544.hp2
HG01346.hp1
HG01943.hp2
HG01981.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02155.hp2
HG02738.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp1
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
 intron_variant MODIFIER c.899-1388delT
c.899-1388delT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78887214
chr5:78887247 A
A
 G
G
 1 a0001c0001t0011g0026
a0001c0001t0011g0026
 1 NA18993.hp1
NA18993.hp1
 intron_variant MODIFIER c.899-1420T>C
c.899-1420T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78887247
chr5:78887301 G
G
 GTT
GTT
 10 a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0002g0270
others(7): Show 
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0002g0270
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0166
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0005t0017g0003
a0001c0005t0074g0073
 10 HG01109.hp2
HG01243.hp2
HG02109.hp1
others(7): Show 
HG01109.hp2
HG01243.hp2
HG02109.hp1
HG02896.hp2
HG02897.hp2
HG03471.hp1
HG03486.hp2
HG03579.hp1
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.899-1475_899-1474i
others(4): Show 
c.899-1475_899-1474insAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78887301
chr5:78887302 C
C
 G
G
 151 a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
others(148): Show 
a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0012g0177
a0001c0003t0014g0220
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0060g0210
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
 152 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(149): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp2
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp2
HG02155.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02602.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02735.hp2
HG02738.hp1
HG02886.hp2
HG02896.hp1
HG03017.hp2
HG03130.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04184.hp1
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp1
NA18963.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18978.hp1
NA18979.hp1
NA18984.hp2
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18989.hp2
NA18992.hp1
NA18993.hp2
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19043.hp1
NA19057.hp2
NA19062.hp2
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-1475G>C
c.899-1475G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78887302
chr5:78887341 G
G
 A
A
 4 a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
others(1): Show 
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
 4 HG01884.hp2
HG01891.hp2
HG03130.hp1
others(1): Show 
HG01884.hp2
HG01891.hp2
HG03130.hp1
NA19240.hp1
 intron_variant MODIFIER c.899-1514C>T
c.899-1514C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78887341
chr5:78887402 G
G
 A
A
 1 a0002c0002t0011g0230
a0002c0002t0011g0230
 1 HG02132.hp2
HG02132.hp2
 intron_variant MODIFIER c.899-1575C>T
c.899-1575C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78887402
chr5:78887411 G
G
 A
A
 4 a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
others(1): Show 
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
 4 HG01884.hp2
HG01891.hp2
HG03130.hp1
others(1): Show 
HG01884.hp2
HG01891.hp2
HG03130.hp1
NA19240.hp1
 intron_variant MODIFIER c.899-1584C>T
c.899-1584C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78887411
chr5:78887438 G
G
 A
A
 38 a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
others(35): Show 
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
 38 HG00408.hp1
HG00544.hp1
HG00558.hp2
others(35): Show 
HG00408.hp1
HG00544.hp1
HG00558.hp2
HG01515.hp1
HG01517.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG02683.hp2
HG03834.hp1
HG03942.hp2
HG04184.hp1
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18946.hp1
NA18949.hp1
NA18951.hp1
NA18954.hp1
NA18961.hp2
NA18968.hp1
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA20752.hp1
 intron_variant MODIFIER c.899-1611C>T
c.899-1611C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78887438
chr5:78887493 A
A
 G
G
 289 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(286): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0254
a0001c0003t0012g0177
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0060g0210
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 290 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(287): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-1666T>C
c.899-1666T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78887493
chr5:78887553 T
T
 C
C
 1 a0001c0003t0002g0262
a0001c0003t0002g0262
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.899-1726A>G
c.899-1726A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78887553
chr5:78887586 C
C
 T
T
 2 a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0193
a0002c0002t0009g0194
 2 HG02004.hp1
HG02293.hp2
HG02004.hp1
HG02293.hp2
 intron_variant MODIFIER c.899-1759G>A
c.899-1759G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78887586
chr5:78887648 A
A
 G
G
 135 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(132): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0007g0181
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0141
a0001c0001t0011g0026
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0254
a0001c0003t0012g0177
a0001c0003t0014g0220
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0060g0210
a0001c0007t0077g0070
a0001c0017t0002g0088
a0001c0021t0003g0358
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
 136 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(133): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp2
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01175.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp2
HG02683.hp1
HG02698.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03710.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
NA18747.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18952.hp2
NA18953.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp1
NA18962.hp2
NA18968.hp2
NA18978.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18988.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA19000.hp2
NA19001.hp2
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19085.hp1
NA19088.hp1
NA21309.hp2
 intron_variant MODIFIER c.899-1821T>C
c.899-1821T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78887648
chr5:78887678 C
C
 T
T
 11 a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
others(8): Show 
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0022t0006g0359
a0005c0016t0002g0237
 11 HG02055.hp2
HG02258.hp1
HG02451.hp1
others(8): Show 
HG02055.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02723.hp1
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG03139.hp1
NA19043.hp2
 intron_variant MODIFIER c.899-1851G>A
c.899-1851G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78887678
chr5:78887685 T
T
 A
A
 1 a0001c0001t0065g0017
a0001c0001t0065g0017
 1 NA19066.hp2
NA19066.hp2
 intron_variant MODIFIER c.899-1858A>T
c.899-1858A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78887685
chr5:78887883 T
T
 C
C
 11 a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
others(8): Show 
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0022t0006g0359
a0005c0016t0002g0237
 11 HG02055.hp2
HG02258.hp1
HG02451.hp1
others(8): Show 
HG02055.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02723.hp1
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG03139.hp1
NA19043.hp2
 intron_variant MODIFIER c.899-2056A>G
c.899-2056A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78887883
chr5:78887937 C
C
 G
G
 1 a0001c0001t0003g0301
a0001c0001t0003g0301
 1 NA18948.hp2
NA18948.hp2
 intron_variant MODIFIER c.899-2110G>C
c.899-2110G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78887937
chr5:78887954 A
A
 G
G
 28 a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
others(25): Show 
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
 29 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(26): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01952.hp2
HG01993.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02735.hp2
HG02886.hp2
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.899-2127T>C
c.899-2127T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78887954
chr5:78888010 C
C
 T
T
 1 a0001c0021t0003g0358
a0001c0021t0003g0358
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.899-2183G>A
c.899-2183G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78888010
chr5:78888077 T
T
 C
C
 1 a0001c0003t0009g0281
a0001c0003t0009g0281
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.899-2250A>G
c.899-2250A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78888077
chr5:78888117 TGACA
TGACA
 T
T
 35 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(32): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0006c0020t0003g0127
 35 HG00438.hp2
HG00558.hp1
HG01261.hp2
others(32): Show 
HG00438.hp2
HG00558.hp1
HG01261.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02135.hp1
HG03491.hp2
HG03492.hp2
HG03654.hp2
HG04115.hp2
HG04199.hp2
NA18942.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18963.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18979.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19011.hp2
NA19077.hp2
NA19088.hp2
 intron_variant MODIFIER c.899-2294_899-2291d
others(6): Show 
c.899-2294_899-2291delTGTC
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78888117
chr5:78888118 G
G
 A
A
 4 a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0006g0219
others(1): Show 
a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0006g0219
a0001c0003t0018g0057
 4 HG02717.hp1
HG03098.hp2
HG03209.hp2
others(1): Show 
HG02717.hp1
HG03098.hp2
HG03209.hp2
NA20129.hp2
 intron_variant MODIFIER c.899-2291C>T
c.899-2291C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78888118
chr5:78888171 C
C
 T
T
 1 a0002c0002t0006g0206
a0002c0002t0006g0206
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.899-2344G>A
c.899-2344G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78888171
chr5:78888272 G
G
 A
A
 1 a0003c0004t0072g0323
a0003c0004t0072g0323
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.899-2445C>T
c.899-2445C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78888272
chr5:78888359 T
T
 C
C
 19 a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
others(16): Show 
a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0012g0177
a0001c0003t0014g0220
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0060g0210
a0001c0021t0003g0358
 19 HG00544.hp2
HG01346.hp1
HG01943.hp2
others(16): Show 
HG00544.hp2
HG01346.hp1
HG01943.hp2
HG01981.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02155.hp2
HG02738.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp1
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
 intron_variant MODIFIER c.899-2532A>G
c.899-2532A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78888359
chr5:78888433 C
C
 G
G
 1 a0001c0001t0001g0031
a0001c0001t0001g0031
 1 NA18983.hp1
NA18983.hp1
 intron_variant MODIFIER c.899-2606G>C
c.899-2606G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78888433
chr5:78888435 C
C
 G
G
 1 a0002c0002t0026g0086
a0002c0002t0026g0086
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.899-2608G>C
c.899-2608G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78888435
chr5:78888580 T
T
 C
C
 131 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(128): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0261
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0171
a0001c0001t0005g0195
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0028g0051
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0006c0020t0003g0127
 132 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(129): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01884.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG01993.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02280.hp1
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03927.hp2
HG04115.hp2
HG04199.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp1
NA18947.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18979.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19063.hp1
NA19077.hp2
NA19085.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.899-2753A>G
c.899-2753A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78888580
chr5:78888724 A
A
 ATAGGAAA
others(2): Show 
ATAGGAAAAT
 86 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(83): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0321
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0172
a0001c0001t0005g0208
a0001c0001t0007g0181
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0141
a0001c0001t0011g0026
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0065g0017
a0001c0003t0006g0254
a0001c0007t0077g0070
a0001c0017t0002g0088
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
 86 HG00140.hp1
HG00280.hp1
HG00323.hp1
others(83): Show 
HG00140.hp1
HG00280.hp1
HG00323.hp1
HG00408.hp2
HG00423.hp1
HG00609.hp1
HG00621.hp2
HG00738.hp1
HG01069.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01175.hp1
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01952.hp1
HG01993.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02280.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp1
HG03098.hp1
HG03139.hp2
HG03453.hp2
HG03579.hp2
HG03654.hp1
HG03834.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
NA18747.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18952.hp2
NA18953.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp1
NA18962.hp2
NA18978.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18992.hp2
NA18993.hp1
NA19001.hp2
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19088.hp1
NA21309.hp2
 intron_variant MODIFIER c.899-2906_899-2898d
others(11): Show 
c.899-2906_899-2898dupATTTTCCTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78888724
chr5:78888977 C
C
 T
T
 4 a0001c0003t0002g0262
a0004c0006t0004g0188
a0004c0006t0004g0215
others(1): Show 
a0001c0003t0002g0262
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0221
 4 HG01358.hp1
HG01496.hp2
HG02451.hp2
others(1): Show 
HG01358.hp1
HG01496.hp2
HG02451.hp2
HG02735.hp1
 intron_variant MODIFIER c.899-3150G>A
c.899-3150G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78888977
chr5:78889037 C
C
 A
A
 6 a0001c0003t0002g0276
a0001c0003t0006g0103
a0001c0003t0034g0071
others(3): Show 
a0001c0003t0002g0276
a0001c0003t0006g0103
a0001c0003t0034g0071
a0001c0005t0032g0117
a0001c0015t0027g0102
a0001c0022t0006g0359
 6 HG02055.hp2
HG02559.hp1
HG02922.hp2
others(3): Show 
HG02055.hp2
HG02559.hp1
HG02922.hp2
HG02965.hp1
HG03139.hp1
NA19043.hp2
 intron_variant MODIFIER c.899-3210G>T
c.899-3210G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78889037
chr5:78889102 A
A
 C
C
 337 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(334): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
 338 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(335): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-3275T>G
c.899-3275T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78889102
chr5:78889120 T
T
 C
C
 11 a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
others(8): Show 
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0022t0006g0359
a0005c0016t0002g0237
 11 HG02055.hp2
HG02258.hp1
HG02451.hp1
others(8): Show 
HG02055.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02723.hp1
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG03139.hp1
NA19043.hp2
 intron_variant MODIFIER c.899-3293A>G
c.899-3293A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78889120
chr5:78889183 A
A
 C
C
 3 a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0069g0273
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0069g0273
 3 HG02572.hp1
HG02895.hp2
HG02897.hp1
HG02572.hp1
HG02895.hp2
HG02897.hp1
 intron_variant MODIFIER c.899-3356T>G
c.899-3356T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78889183
chr5:78889325 C
C
 T
T
 2 a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0196
a0002c0002t0003g0197
 2 HG01070.hp2
HG01071.hp1
HG01070.hp2
HG01071.hp1
 intron_variant MODIFIER c.899-3498G>A
c.899-3498G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78889325
chr5:78889326 G
G
 A
A
 9 a0001c0001t0002g0104
a0001c0001t0011g0105
a0002c0002t0001g0054
others(6): Show 
a0001c0001t0002g0104
a0001c0001t0011g0105
a0002c0002t0001g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0042g0224
 9 HG00423.hp2
HG00609.hp2
NA18943.hp1
others(6): Show 
HG00423.hp2
HG00609.hp2
NA18943.hp1
NA18963.hp2
NA18983.hp2
NA18984.hp2
NA18993.hp2
NA18995.hp2
NA19066.hp1
 intron_variant MODIFIER c.899-3499C>T
c.899-3499C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78889326
chr5:78889361 G
G
 A
A
 3 a0003c0004t0003g0095
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0003g0095
a0003c0004t0029g0108
a0003c0004t0029g0109
 3 HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
 intron_variant MODIFIER c.899-3534C>T
c.899-3534C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78889361
chr5:78889477 A
A
 G
G
 88 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(85): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0321
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0172
a0001c0001t0005g0208
a0001c0001t0007g0181
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0141
a0001c0001t0011g0026
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0065g0017
a0001c0003t0006g0254
a0001c0007t0077g0070
a0001c0017t0002g0088
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
 88 HG00140.hp1
HG00280.hp1
HG00323.hp1
others(85): Show 
HG00140.hp1
HG00280.hp1
HG00323.hp1
HG00408.hp2
HG00423.hp1
HG00609.hp1
HG00621.hp2
HG00738.hp1
HG01069.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01175.hp1
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01952.hp1
HG01993.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02280.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp1
HG03098.hp1
HG03139.hp2
HG03453.hp2
HG03579.hp2
HG03654.hp1
HG03834.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
NA18747.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18952.hp2
NA18953.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp1
NA18962.hp2
NA18968.hp2
NA18978.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA19001.hp2
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19088.hp1
NA21309.hp2
 intron_variant MODIFIER c.899-3650T>C
c.899-3650T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78889477
chr5:78889603 T
T
 C
C
 1 a0001c0001t0008g0223
a0001c0001t0008g0223
 1 NA19010.hp2
NA19010.hp2
 intron_variant MODIFIER c.899-3776A>G
c.899-3776A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78889603
chr5:78889611 G
G
 A
A
 2 a0001c0003t0012g0177
a0001c0003t0022g0178
a0001c0003t0012g0177
a0001c0003t0022g0178
 2 HG03225.hp2
HG03471.hp2
HG03225.hp2
HG03471.hp2
 intron_variant MODIFIER c.899-3784C>T
c.899-3784C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78889611
chr5:78889723 C
C
 T
T
 2 a0001c0003t0002g0253
a0001c0005t0075g0112
a0001c0003t0002g0253
a0001c0005t0075g0112
 2 HG02647.hp2
HG02976.hp1
HG02647.hp2
HG02976.hp1
 intron_variant MODIFIER c.899-3896G>A
c.899-3896G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78889723
chr5:78889840 C
C
 T
T
 1 a0001c0007t0004g0100
a0001c0007t0004g0100
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.899-4013G>A
c.899-4013G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78889840
chr5:78889848 C
C
 T
T
 28 a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
others(25): Show 
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
 29 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(26): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01952.hp2
HG01993.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02735.hp2
HG02886.hp2
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.899-4021G>A
c.899-4021G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78889848
chr5:78889878 T
T
 C
C
 131 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(128): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0261
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0171
a0001c0001t0005g0195
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0028g0051
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0006c0020t0003g0127
 132 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(129): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01884.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG01993.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02280.hp1
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03927.hp2
HG04115.hp2
HG04199.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp1
NA18947.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18979.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19063.hp1
NA19077.hp2
NA19085.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.899-4051A>G
c.899-4051A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78889878
chr5:78890010 G
G
 A
A
 1 a0001c0007t0004g0100
a0001c0007t0004g0100
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.899-4183C>T
c.899-4183C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78890010
chr5:78890219 T
T
 A
A
 1 a0001c0005t0074g0073
a0001c0005t0074g0073
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.899-4392A>T
c.899-4392A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78890219
chr5:78890247 TTA
TTA
 T
T
 3 a0001c0001t0001g0134
a0001c0001t0004g0328
a0002c0002t0018g0308
a0001c0001t0001g0134
a0001c0001t0004g0328
a0002c0002t0018g0308
 3 HG03017.hp1
NA18961.hp2
NA18984.hp1
HG03017.hp1
NA18961.hp2
NA18984.hp1
 intron_variant MODIFIER c.899-4422_899-4421d
others(4): Show 
c.899-4422_899-4421delTA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78890247
chr5:78890249 A
A
 C
C
 334 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(331): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
 335 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(332): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-4422T>G
c.899-4422T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78890249
chr5:78890251 C
C
 CT
CT
 7 a0001c0001t0001g0265
a0001c0001t0006g0356
a0001c0001t0018g0130
others(4): Show 
a0001c0001t0001g0265
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0005t0075g0112
a0001c0007t0004g0100
a0001c0007t0068g0111
a0003c0004t0023g0148
 7 HG01070.hp1
HG01261.hp2
HG02976.hp1
others(4): Show 
HG01070.hp1
HG01261.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03516.hp2
HG03540.hp2
 intron_variant MODIFIER c.899-4425dupA
c.899-4425dupA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78890251
chr5:78890251 C
C
 CTT
CTT
 99 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(96): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0315
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0261
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0171
a0001c0001t0005g0195
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0012g0177
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0060g0210
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0022t0006g0359
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0006c0020t0003g0127
 100 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(97): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG00741.hp1
HG01243.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG01993.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02280.hp1
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02809.hp2
HG02886.hp2
HG02922.hp2
HG02965.hp1
HG03017.hp2
HG03098.hp2
HG03139.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03669.hp1
HG03710.hp2
HG03927.hp2
HG04115.hp2
HG04199.hp2
NA18942.hp1
NA18947.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18979.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19063.hp1
NA19077.hp2
NA19085.hp1
NA19088.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.899-4426_899-4425d
others(4): Show 
c.899-4426_899-4425dupAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78890251
chr5:78890251 CT
CT
 C
C
 209 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(206): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0321
a0001c0001t0002g0039
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0003g0021
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0172
a0001c0001t0005g0208
a0001c0001t0007g0181
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0029
a0001c0001t0010g0141
a0001c0001t0011g0026
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0065g0017
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0002g0270
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0008g0116
a0001c0003t0012g0166
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0048g0266
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0017g0003
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0007t0036g0259
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
 209 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(206): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02280.hp2
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18972.hp1
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-4425delA
c.899-4425delA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78890251
chr5:78890253 T
T
 C
C
 3 a0001c0001t0001g0134
a0001c0001t0004g0328
a0002c0002t0018g0308
a0001c0001t0001g0134
a0001c0001t0004g0328
a0002c0002t0018g0308
 3 HG03017.hp1
NA18961.hp2
NA18984.hp1
HG03017.hp1
NA18961.hp2
NA18984.hp1
 intron_variant MODIFIER c.899-4426A>G
c.899-4426A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78890253
chr5:78890287 T
T
 G
G
 131 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(128): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0261
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0171
a0001c0001t0005g0195
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0028g0051
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0006c0020t0003g0127
 132 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(129): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01884.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG01993.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02280.hp1
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03927.hp2
HG04115.hp2
HG04199.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp1
NA18947.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18979.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19063.hp1
NA19077.hp2
NA19085.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.899-4460A>C
c.899-4460A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78890287
chr5:78890399 T
T
 C
C
 1 a0002c0002t0004g0097
a0002c0002t0004g0097
 1 NA18951.hp2
NA18951.hp2
 intron_variant MODIFIER c.899-4572A>G
c.899-4572A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78890399
chr5:78890512 C
C
 T
T
 1 a0001c0007t0068g0111
a0001c0007t0068g0111
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.899-4685G>A
c.899-4685G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78890512
chr5:78890646 C
C
 T
T
 17 a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
others(14): Show 
a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0320
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0012g0177
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0060g0210
a0001c0021t0003g0358
 17 HG00544.hp2
HG01346.hp1
HG01943.hp2
others(14): Show 
HG00544.hp2
HG01346.hp1
HG01943.hp2
HG01981.hp2
HG02071.hp1
HG02074.hp1
HG02738.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp1
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
 intron_variant MODIFIER c.899-4819G>A
c.899-4819G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78890646
chr5:78890691 A
A
 C
C
 1 a0001c0001t0003g0093
a0001c0001t0003g0093
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.899-4864T>G
c.899-4864T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78890691
chr5:78890735 C
C
 T
T
 118 a0001c0001t0003g0021
a0001c0003t0006g0156
a0001c0003t0006g0267
others(115): Show 
a0001c0001t0003g0021
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
 118 HG00099.hp1
HG00140.hp2
HG00408.hp1
others(115): Show 
HG00099.hp1
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02293.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03486.hp1
HG03540.hp1
HG03669.hp2
HG03710.hp1
HG03834.hp1
HG03942.hp2
HG04184.hp1
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18961.hp2
NA18963.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp1
NA18972.hp1
NA18975.hp1
NA18978.hp1
NA18979.hp1
NA18984.hp2
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18992.hp1
NA18993.hp2
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-4908G>A
c.899-4908G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78890735
chr5:78890740 C
C
 T
T
 1 a0001c0003t0002g0262
a0001c0003t0002g0262
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.899-4913G>A
c.899-4913G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78890740
chr5:78890927 T
T
 C
C
 1 a0001c0001t0008g0036
a0001c0001t0008g0036
 1 NA18962.hp2
NA18962.hp2
 intron_variant MODIFIER c.899-5100A>G
c.899-5100A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78890927
chr5:78890984 CTCTG
CTCTG
 C
C
 13 a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
others(10): Show 
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
 13 HG01891.hp1
HG02145.hp1
HG02572.hp1
others(10): Show 
HG01891.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.899-5161_899-5158d
others(6): Show 
c.899-5161_899-5158delCAGA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78890984
chr5:78891210 T
T
 A
A
 79 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(76): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0005
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0261
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0338
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0007t0004g0100
a0001c0007t0068g0111
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0006c0020t0003g0127
 80 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(77): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00558.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01243.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01993.hp2
HG02056.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02717.hp1
HG02735.hp2
HG02809.hp1
HG02886.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03209.hp2
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03927.hp2
HG04115.hp2
HG04199.hp2
NA18942.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18963.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18979.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19077.hp2
NA19088.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.899-5383A>T
c.899-5383A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78891210
chr5:78891240 G
G
 C
C
 17 a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
others(14): Show 
a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0320
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0012g0177
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0060g0210
a0001c0021t0003g0358
 17 HG00544.hp2
HG01346.hp1
HG01943.hp2
others(14): Show 
HG00544.hp2
HG01346.hp1
HG01943.hp2
HG01981.hp2
HG02071.hp1
HG02074.hp1
HG02738.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp1
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
 intron_variant MODIFIER c.899-5413C>G
c.899-5413C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78891240
chr5:78891249 T
T
 A
A
 17 a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
others(14): Show 
a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0320
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0012g0177
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0060g0210
a0001c0021t0003g0358
 17 HG00544.hp2
HG01346.hp1
HG01943.hp2
others(14): Show 
HG00544.hp2
HG01346.hp1
HG01943.hp2
HG01981.hp2
HG02071.hp1
HG02074.hp1
HG02738.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp1
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
 intron_variant MODIFIER c.899-5422A>T
c.899-5422A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78891249
chr5:78891312 G
G
 A
A
 2 a0001c0001t0001g0035
a0001c0001t0008g0036
a0001c0001t0001g0035
a0001c0001t0008g0036
 2 NA18957.hp1
NA18962.hp2
NA18957.hp1
NA18962.hp2
 intron_variant MODIFIER c.899-5485C>T
c.899-5485C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78891312
chr5:78891317 A
A
 G
G
 114 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(111): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0005
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0261
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0028g0051
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0015t0027g0102
a0001c0022t0006g0359
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0006c0020t0003g0127
 115 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(112): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00558.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01884.hp1
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01993.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02280.hp1
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03927.hp2
HG04115.hp2
HG04199.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18963.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18979.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19077.hp2
NA19088.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.899-5490T>C
c.899-5490T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78891317
chr5:78891519 G
G
 A
A
 37 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(34): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0338
a0001c0003t0014g0220
a0006c0020t0003g0127
 37 HG00438.hp2
HG00558.hp1
HG01261.hp2
others(34): Show 
HG00438.hp2
HG00558.hp1
HG01261.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02056.hp2
HG02135.hp1
HG02155.hp2
HG03491.hp2
HG03492.hp2
HG03654.hp2
HG04115.hp2
HG04199.hp2
NA18942.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18963.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18979.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19011.hp2
NA19077.hp2
NA19088.hp2
 intron_variant MODIFIER c.899-5692C>T
c.899-5692C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78891519
chr5:78891705 T
T
 C
C
 1 a0001c0001t0008g0065
a0001c0001t0008g0065
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.899-5878A>G
c.899-5878A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78891705
chr5:78891860 T
T
 G
G
 23 a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
others(20): Show 
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0270
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0007t0036g0259
 23 HG01109.hp2
HG01243.hp2
HG01884.hp1
others(20): Show 
HG01109.hp2
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02109.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG03195.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA18906.hp1
NA18906.hp2
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.899-6033A>C
c.899-6033A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78891860
chr5:78891860 T
T
 TTTTATGA
others(17): Show 
TTTTATGACCATCATCACTTTCCCC
 9 a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0034g0071
others(6): Show 
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0076g0268
a0001c0015t0027g0102
a0005c0016t0002g0237
 9 HG02055.hp2
HG02258.hp1
HG02451.hp1
others(6): Show 
HG02055.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp2
HG02723.hp1
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG03139.hp1
 intron_variant MODIFIER c.899-6057_899-6034d
others(26): Show 
c.899-6057_899-6034dupGGGGAAAGTGATGATGGTCATAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78891860
chr5:78891976 T
T
 G
G
 221 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(218): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0321
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0003g0021
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0172
a0001c0001t0005g0208
a0001c0001t0006g0356
a0001c0001t0007g0181
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0141
a0001c0001t0011g0026
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0065g0017
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
 221 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(218): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02155.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18954.hp1
NA18957.hp1
NA18959.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18972.hp1
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-6149A>C
c.899-6149A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78891976
chr5:78891996 T
T
 C
C
 1 a0003c0004t0012g0123
a0003c0004t0012g0123
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.899-6169A>G
c.899-6169A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78891996
chr5:78892114 C
C
 G
G
 1 a0001c0001t0005g0172
a0001c0001t0005g0172
 1 HG00408.hp2
HG00408.hp2
 intron_variant MODIFIER c.899-6287G>C
c.899-6287G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78892114
chr5:78892204 A
A
 G
G
 8 a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
others(5): Show 
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0057g0284
a0002c0002t0064g0285
 8 HG00099.hp1
HG00140.hp2
HG01175.hp2
others(5): Show 
HG00099.hp1
HG00140.hp2
HG01175.hp2
HG01192.hp2
HG01978.hp2
HG02698.hp1
HG03710.hp1
NA20805.hp1
 intron_variant MODIFIER c.899-6377T>C
c.899-6377T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78892204
chr5:78892248 C
C
 CT
CT
 20 a0001c0001t0001g0289
a0001c0001t0002g0104
a0001c0001t0002g0277
others(17): Show 
a0001c0001t0001g0289
a0001c0001t0002g0104
a0001c0001t0002g0277
a0001c0001t0003g0159
a0001c0001t0003g0190
a0001c0001t0020g0146
a0001c0001t0037g0059
a0001c0001t0065g0017
a0001c0003t0002g0262
a0001c0003t0006g0212
a0002c0002t0003g0306
a0002c0002t0003g0336
a0002c0002t0005g0192
a0002c0002t0007g0081
a0002c0002t0012g0228
a0002c0002t0013g0240
a0002c0002t0025g0213
a0003c0004t0001g0154
a0003c0004t0033g0282
a0003c0004t0072g0323
 20 HG00558.hp2
HG01175.hp1
HG01358.hp2
others(17): Show 
HG00558.hp2
HG01175.hp1
HG01358.hp2
HG02027.hp1
HG02145.hp2
HG02451.hp2
HG02602.hp1
HG02738.hp2
HG03453.hp2
HG04115.hp1
HG04204.hp1
NA18941.hp2
NA18961.hp1
NA18989.hp2
NA19030.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA20300.hp2
 intron_variant MODIFIER c.899-6422dupA
c.899-6422dupA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78892248
chr5:78892248 C
C
 CTT
CTT
 8 a0001c0001t0004g0058
a0001c0001t0006g0356
a0001c0001t0018g0130
others(5): Show 
a0001c0001t0004g0058
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0003t0016g0258
a0001c0005t0013g0004
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
 8 HG02922.hp1
HG02976.hp2
HG03041.hp2
others(5): Show 
HG02922.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03516.hp2
HG03540.hp2
NA19240.hp2
 intron_variant MODIFIER c.899-6423_899-6422d
others(4): Show 
c.899-6423_899-6422dupAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78892248
chr5:78892248 C
C
 CTTT
CTTT
 33 a0001c0001t0005g0195
a0001c0001t0007g0333
a0001c0001t0059g0332
others(30): Show 
a0001c0001t0005g0195
a0001c0001t0007g0333
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0253
a0001c0003t0002g0270
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0074g0073
a0001c0005t0075g0112
 33 HG00544.hp2
HG01109.hp2
HG01243.hp2
others(30): Show 
HG00544.hp2
HG01109.hp2
HG01243.hp2
HG01346.hp1
HG01884.hp1
HG01943.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02976.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03579.hp1
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
NA20300.hp1
 intron_variant MODIFIER c.899-6424_899-6422d
others(5): Show 
c.899-6424_899-6422dupAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78892248
chr5:78892248 CT
CT
 C
C
 24 a0001c0001t0001g0087
a0001c0001t0001g0134
a0001c0001t0001g0135
others(21): Show 
a0001c0001t0001g0087
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0002g0039
a0001c0001t0002g0209
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0005g0038
a0001c0001t0005g0172
a0001c0001t0005g0208
a0001c0001t0007g0115
a0001c0001t0013g0329
a0001c0001t0014g0199
a0001c0001t0021g0347
a0001c0001t0031g0324
a0001c0003t0002g0013
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0006g0267
a0001c0003t0007g0352
a0001c0003t0035g0357
a0001c0005t0076g0268
a0002c0002t0009g0080
a0002c0002t0055g0094
 24 HG00408.hp2
HG00423.hp1
HG00733.hp1
others(21): Show 
HG00408.hp2
HG00423.hp1
HG00733.hp1
HG01074.hp2
HG01106.hp2
HG01261.hp1
HG01978.hp1
HG02132.hp1
HG02145.hp1
HG02155.hp1
HG02258.hp1
HG02451.hp1
HG02523.hp1
HG02723.hp1
HG02809.hp1
HG03130.hp2
HG03195.hp2
HG03453.hp1
HG03669.hp2
HG04199.hp2
NA18953.hp2
NA18963.hp1
NA18984.hp1
NA19074.hp2
 intron_variant MODIFIER c.899-6422delA
c.899-6422delA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78892248
chr5:78892248 CTT
CTT
 C
C
 59 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(56): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0005
a0001c0001t0002g0145
a0001c0001t0002g0261
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0007g0250
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0025g0316
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0276
a0001c0003t0002g0338
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0008g0116
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0022t0006g0359
a0005c0016t0002g0237
a0006c0020t0003g0127
 59 HG00438.hp2
HG00558.hp1
HG00621.hp2
others(56): Show 
HG00438.hp2
HG00558.hp1
HG00621.hp2
HG00741.hp1
HG01243.hp1
HG01261.hp2
HG01891.hp1
HG01943.hp1
HG02055.hp2
HG02056.hp2
HG02135.hp1
HG02155.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03486.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03654.hp2
HG04115.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18979.hp2
NA18985.hp2
NA18988.hp2
NA18995.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19077.hp2
NA19088.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.899-6423_899-6422d
others(4): Show 
c.899-6423_899-6422delAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78892248
chr5:78892248 CTTTTTTT
others(6): Show 
CTTTTTTTTTTTTT
 C
C
 1 a0002c0002t0003g0025
a0002c0002t0003g0025
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.899-6434_899-6422d
others(15): Show 
c.899-6434_899-6422delAAAAAAAAAAAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78892248
chr5:78892290 C
C
 A
A
 1 a0002c0002t0003g0025
a0002c0002t0003g0025
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.899-6463G>T
c.899-6463G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78892290
chr5:78892440 A
A
 C
C
 7 a0001c0003t0002g0013
a0001c0003t0002g0269
a0001c0003t0002g0349
others(4): Show 
a0001c0003t0002g0013
a0001c0003t0002g0269
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0012g0089
a0001c0003t0012g0350
a0001c0003t0027g0114
 7 HG00733.hp1
HG01168.hp2
HG02258.hp2
others(4): Show 
HG00733.hp1
HG01168.hp2
HG02258.hp2
HG02572.hp2
HG02647.hp1
HG03041.hp1
HG03195.hp2
 intron_variant MODIFIER c.899-6613T>G
c.899-6613T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78892440
chr5:78892531 C
C
 T
T
 14 a0001c0003t0002g0270
a0001c0003t0006g0156
a0001c0003t0006g0267
others(11): Show 
a0001c0003t0002g0270
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
 14 HG01243.hp2
HG01891.hp1
HG02145.hp1
others(11): Show 
HG01243.hp2
HG01891.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.899-6704G>A
c.899-6704G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78892531
chr5:78892572 T
T
 A
A
 1 a0003c0004t0003g0292
a0003c0004t0003g0292
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.899-6745A>T
c.899-6745A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78892572
chr5:78892582 C
C
 A
A
 22 a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
others(19): Show 
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0007t0036g0259
 22 HG01109.hp2
HG01884.hp1
HG02055.hp1
others(19): Show 
HG01109.hp2
HG01884.hp1
HG02055.hp1
HG02109.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG03195.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA18906.hp1
NA18906.hp2
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.899-6755G>T
c.899-6755G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78892582
chr5:78892592 G
G
 T
T
 133 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(130): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0065g0017
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0006g0254
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0007t0077g0070
a0001c0017t0002g0088
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 133 HG00140.hp1
HG00280.hp1
HG00323.hp1
others(130): Show 
HG00140.hp1
HG00280.hp1
HG00323.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01175.hp1
HG01243.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01943.hp1
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01993.hp1
HG02027.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02280.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02698.hp2
HG02717.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03209.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
NA18747.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18992.hp2
NA18993.hp1
NA18995.hp1
NA19001.hp2
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.899-6765C>A
c.899-6765C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78892592
chr5:78892618 G
G
 T
T
 309 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(306): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
 309 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(306): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-6791C>A
c.899-6791C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78892618
chr5:78892630 C
C
 T
T
 1 a0001c0001t0031g0324
a0001c0001t0031g0324
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.899-6803G>A
c.899-6803G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78892630
chr5:78892767 A
A
 G
G
 1 a0001c0001t0002g0261
a0001c0001t0002g0261
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.899-6940T>C
c.899-6940T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78892767
chr5:78892779 G
G
 A
A
 1 a0001c0001t0034g0072
a0001c0001t0034g0072
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.899-6952C>T
c.899-6952C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78892779
chr5:78892962 C
C
 T
T
 3 a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0007t0068g0111
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0007t0068g0111
 3 HG02976.hp2
HG03041.hp2
HG03516.hp2
HG02976.hp2
HG03041.hp2
HG03516.hp2
 intron_variant MODIFIER c.899-7135G>A
c.899-7135G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78892962
chr5:78893112 G
G
 T
T
 309 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(306): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
 309 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(306): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-7285C>A
c.899-7285C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78893112
chr5:78893317 G
G
 A
A
 14 a0001c0003t0002g0270
a0001c0003t0006g0156
a0001c0003t0006g0267
others(11): Show 
a0001c0003t0002g0270
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
 14 HG01243.hp2
HG01891.hp1
HG02145.hp1
others(11): Show 
HG01243.hp2
HG01891.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.899-7490C>T
c.899-7490C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78893317
chr5:78893556 A
A
 G
G
 237 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(234): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0065g0017
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0006g0254
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0007t0077g0070
a0001c0017t0002g0088
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 237 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(234): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01943.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02280.hp2
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-7729T>C
c.899-7729T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78893556
chr5:78893571 A
A
 G
G
 14 a0001c0003t0002g0270
a0001c0003t0006g0156
a0001c0003t0006g0267
others(11): Show 
a0001c0003t0002g0270
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
 14 HG01243.hp2
HG01891.hp1
HG02145.hp1
others(11): Show 
HG01243.hp2
HG01891.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.899-7744T>C
c.899-7744T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78893571
chr5:78893584 T
T
 G
G
 3 a0001c0003t0002g0354
a0001c0003t0035g0357
a0001c0005t0076g0268
a0001c0003t0002g0354
a0001c0003t0035g0357
a0001c0005t0076g0268
 3 HG02258.hp1
HG02451.hp1
HG02723.hp1
HG02258.hp1
HG02451.hp1
HG02723.hp1
 intron_variant MODIFIER c.899-7757A>C
c.899-7757A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78893584
chr5:78893631 T
T
 C
C
 1 a0001c0003t0002g0262
a0001c0003t0002g0262
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.899-7804A>G
c.899-7804A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78893631
chr5:78893704 G
G
 A
A
 4 a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
others(1): Show 
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
 4 HG01884.hp2
HG01891.hp2
HG03130.hp1
others(1): Show 
HG01884.hp2
HG01891.hp2
HG03130.hp1
NA19240.hp1
 intron_variant MODIFIER c.899-7877C>T
c.899-7877C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78893704
chr5:78893778 C
C
 T
T
 1 a0002c0002t0064g0285
a0002c0002t0064g0285
 1 HG01192.hp2
HG01192.hp2
 intron_variant MODIFIER c.899-7951G>A
c.899-7951G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78893778
chr5:78893846 C
C
 T
T
 1 a0002c0002t0003g0336
a0002c0002t0003g0336
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.899-8019G>A
c.899-8019G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78893846
chr5:78893872 C
C
 A
A
 5 a0003c0004t0001g0153
a0003c0004t0001g0187
a0003c0004t0002g0128
others(2): Show 
a0003c0004t0001g0153
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0003g0283
a0003c0004t0033g0282
 5 HG00099.hp2
HG00280.hp2
HG01255.hp2
others(2): Show 
HG00099.hp2
HG00280.hp2
HG01255.hp2
HG01358.hp2
HG01361.hp1
 intron_variant MODIFIER c.899-8045G>T
c.899-8045G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78893872
chr5:78893886 T
T
 C
C
 237 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(234): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0065g0017
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0006g0254
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0007t0077g0070
a0001c0017t0002g0088
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 237 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(234): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01943.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02280.hp2
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-8059A>G
c.899-8059A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78893886
chr5:78894003 T
T
 C
C
 1 a0001c0001t0002g0005
a0001c0001t0002g0005
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.899-8176A>G
c.899-8176A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78894003
chr5:78894308 T
T
 C
C
 1 a0002c0002t0001g0299
a0002c0002t0001g0299
 1 NA18949.hp1
NA18949.hp1
 intron_variant MODIFIER c.899-8481A>G
c.899-8481A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78894308
chr5:78894329 T
T
 A
A
 58 a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0006g0356
others(55): Show 
a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0006g0356
a0001c0001t0007g0333
a0001c0001t0018g0130
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0028g0051
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0005c0016t0002g0237
 58 HG00544.hp2
HG01109.hp2
HG01346.hp1
others(55): Show 
HG00544.hp2
HG01109.hp2
HG01346.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19043.hp2
NA19063.hp1
NA19085.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.899-8502A>T
c.899-8502A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78894329
chr5:78894394 A
A
 G
G
 356 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(353): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 357 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(354): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-8567T>C
c.899-8567T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78894394
chr5:78894498 C
C
 A
A
 14 a0001c0003t0002g0270
a0001c0003t0006g0156
a0001c0003t0006g0267
others(11): Show 
a0001c0003t0002g0270
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
 14 HG01243.hp2
HG01891.hp1
HG02145.hp1
others(11): Show 
HG01243.hp2
HG01891.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.899-8671G>T
c.899-8671G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78894498
chr5:78894545 T
T
 C
C
 62 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(59): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0305
a0001c0001t0001g0321
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0003g0063
a0001c0001t0003g0140
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0307
a0001c0001t0004g0020
a0001c0001t0004g0083
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0008g0036
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0223
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0141
a0001c0001t0011g0026
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0014g0189
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0065g0017
a0001c0003t0002g0320
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
 62 HG00140.hp1
HG00280.hp1
HG00323.hp1
others(59): Show 
HG00140.hp1
HG00280.hp1
HG00323.hp1
HG00438.hp2
HG00609.hp1
HG00738.hp1
HG01069.hp2
HG01071.hp2
HG01175.hp1
HG01258.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01952.hp1
HG01993.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp2
HG02129.hp2
HG02135.hp2
HG02523.hp2
HG02602.hp2
HG02698.hp2
HG02735.hp1
HG03017.hp1
HG03834.hp2
HG04184.hp2
HG04199.hp1
NA18747.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18952.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp1
NA18962.hp2
NA18978.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18992.hp2
NA18993.hp1
NA19001.hp2
NA19004.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19088.hp1
 intron_variant MODIFIER c.899-8718A>G
c.899-8718A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78894545
chr5:78894648 G
G
 A
A
 58 a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0006g0356
others(55): Show 
a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0006g0356
a0001c0001t0007g0333
a0001c0001t0018g0130
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0028g0051
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0005c0016t0002g0237
 58 HG00544.hp2
HG01109.hp2
HG01346.hp1
others(55): Show 
HG00544.hp2
HG01109.hp2
HG01346.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19043.hp2
NA19063.hp1
NA19085.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.899-8821C>T
c.899-8821C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78894648
chr5:78894784 A
A
 AAT
AAT
 4 a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
others(1): Show 
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
 4 HG01884.hp2
HG01891.hp2
HG03130.hp1
others(1): Show 
HG01884.hp2
HG01891.hp2
HG03130.hp1
NA19240.hp1
 intron_variant MODIFIER c.899-8959_899-8958d
others(4): Show 
c.899-8959_899-8958dupAT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78894784
chr5:78894847 G
G
 A
A
 14 a0001c0003t0002g0270
a0001c0003t0006g0156
a0001c0003t0006g0267
others(11): Show 
a0001c0003t0002g0270
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
 14 HG01243.hp2
HG01891.hp1
HG02145.hp1
others(11): Show 
HG01243.hp2
HG01891.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.899-9020C>T
c.899-9020C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78894847
chr5:78895004 G
G
 C
C
 14 a0001c0003t0002g0270
a0001c0003t0006g0156
a0001c0003t0006g0267
others(11): Show 
a0001c0003t0002g0270
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
 14 HG01243.hp2
HG01891.hp1
HG02145.hp1
others(11): Show 
HG01243.hp2
HG01891.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.899-9177C>G
c.899-9177C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78895004
chr5:78895047 A
A
 C
C
 26 a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
others(23): Show 
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0007t0036g0259
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
 26 HG01109.hp2
HG01884.hp1
HG01884.hp2
others(23): Show 
HG01109.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp1
HG02109.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG03130.hp1
HG03195.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA18906.hp1
NA18906.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.899-9220T>G
c.899-9220T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78895047
chr5:78895103 G
G
 C
C
 1 a0003c0004t0003g0292
a0003c0004t0003g0292
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.899-9276C>G
c.899-9276C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78895103
chr5:78895347 G
G
 A
A
 11 a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
others(8): Show 
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0022t0006g0359
a0005c0016t0002g0237
 11 HG02055.hp2
HG02258.hp1
HG02451.hp1
others(8): Show 
HG02055.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02723.hp1
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG03139.hp1
NA19043.hp2
 intron_variant MODIFIER c.899-9520C>T
c.899-9520C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78895347
chr5:78895623 G
G
 C
C
 3 a0001c0003t0002g0354
a0001c0003t0035g0357
a0001c0005t0076g0268
a0001c0003t0002g0354
a0001c0003t0035g0357
a0001c0005t0076g0268
 3 HG02258.hp1
HG02451.hp1
HG02723.hp1
HG02258.hp1
HG02451.hp1
HG02723.hp1
 intron_variant MODIFIER c.899-9796C>G
c.899-9796C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78895623
chr5:78895727 T
T
 C
C
 23 a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0003t0002g0262
others(20): Show 
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
 23 HG01243.hp2
HG01884.hp2
HG01891.hp1
others(20): Show 
HG01243.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02145.hp1
HG02451.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
NA19240.hp1
 intron_variant MODIFIER c.899-9900A>G
c.899-9900A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78895727
chr5:78895736 T
T
 C
C
 1 a0002c0002t0002g0085
a0002c0002t0002g0085
 1 NA18963.hp2
NA18963.hp2
 intron_variant MODIFIER c.899-9909A>G
c.899-9909A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78895736
chr5:78895773 T
T
 C
C
 2 a0001c0003t0012g0177
a0001c0003t0022g0178
a0001c0003t0012g0177
a0001c0003t0022g0178
 2 HG03225.hp2
HG03471.hp2
HG03225.hp2
HG03471.hp2
 intron_variant MODIFIER c.899-9946A>G
c.899-9946A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78895773
chr5:78895842 G
G
 A
A
 1 a0002c0002t0008g0311
a0002c0002t0008g0311
 1 NA18986.hp2
NA18986.hp2
 intron_variant MODIFIER c.899-10015C>T
c.899-10015C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78895842
chr5:78896006 G
G
 A
A
 36 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(33): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0338
a0001c0003t0014g0220
a0006c0020t0003g0127
 36 HG00558.hp1
HG01261.hp2
HG01943.hp1
others(33): Show 
HG00558.hp1
HG01261.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02056.hp2
HG02135.hp1
HG02155.hp2
HG03491.hp2
HG03492.hp2
HG03654.hp2
HG04115.hp2
HG04199.hp2
NA18942.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18963.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18979.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19011.hp2
NA19077.hp2
NA19088.hp2
 intron_variant MODIFIER c.899-10179C>T
c.899-10179C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78896006
chr5:78896028 A
A
 G
G
 11 a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
others(8): Show 
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0022t0006g0359
a0005c0016t0002g0237
 11 HG02055.hp2
HG02258.hp1
HG02451.hp1
others(8): Show 
HG02055.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02723.hp1
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG03139.hp1
NA19043.hp2
 intron_variant MODIFIER c.899-10201T>C
c.899-10201T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78896028
chr5:78896086 G
G
 A
A
 1 a0001c0003t0002g0351
a0001c0003t0002g0351
 1 HG00733.hp1
HG00733.hp1
 intron_variant MODIFIER c.899-10259C>T
c.899-10259C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78896086
chr5:78896162 G
G
 A
A
 1 a0001c0001t0002g0145
a0001c0001t0002g0145
 1 NA18995.hp1
NA18995.hp1
 intron_variant MODIFIER c.899-10335C>T
c.899-10335C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78896162
chr5:78896241 G
G
 A
A
 1 a0002c0002t0001g0158
a0002c0002t0001g0158
 1 HG00099.hp1
HG00099.hp1
 intron_variant MODIFIER c.899-10414C>T
c.899-10414C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78896241
chr5:78896242 C
C
 T
T
 11 a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
others(8): Show 
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0022t0006g0359
a0005c0016t0002g0237
 11 HG02055.hp2
HG02258.hp1
HG02451.hp1
others(8): Show 
HG02055.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02723.hp1
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG03139.hp1
NA19043.hp2
 intron_variant MODIFIER c.899-10415G>A
c.899-10415G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78896242
chr5:78896373 G
G
 C
C
 1 a0002c0002t0003g0306
a0002c0002t0003g0306
 1 NA18941.hp2
NA18941.hp2
 intron_variant MODIFIER c.899-10546C>G
c.899-10546C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78896373
chr5:78896580 T
T
 G
G
 5 a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0003t0002g0262
others(2): Show 
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0003t0002g0262
a0001c0007t0004g0100
a0001c0007t0068g0111
 5 HG02451.hp2
HG02976.hp2
HG03041.hp2
others(2): Show 
HG02451.hp2
HG02976.hp2
HG03041.hp2
HG03516.hp2
HG03540.hp2
 intron_variant MODIFIER c.899-10753A>C
c.899-10753A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78896580
chr5:78896615 G
G
 A
A
 1 a0001c0001t0025g0316
a0001c0001t0025g0316
 1 NA18959.hp2
NA18959.hp2
 intron_variant MODIFIER c.899-10788C>T
c.899-10788C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78896615
chr5:78896724 A
A
 G
G
 1 a0001c0003t0002g0078
a0001c0003t0002g0078
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.899-10897T>C
c.899-10897T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78896724
chr5:78896797 T
T
 C
C
 1 a0001c0001t0001g0289
a0001c0001t0001g0289
 1 HG02738.hp2
HG02738.hp2
 intron_variant MODIFIER c.899-10970A>G
c.899-10970A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78896797
chr5:78896832 T
T
 C
C
 3 a0001c0003t0002g0354
a0001c0003t0035g0357
a0001c0005t0076g0268
a0001c0003t0002g0354
a0001c0003t0035g0357
a0001c0005t0076g0268
 3 HG02258.hp1
HG02451.hp1
HG02723.hp1
HG02258.hp1
HG02451.hp1
HG02723.hp1
 intron_variant MODIFIER c.899-11005A>G
c.899-11005A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78896832
chr5:78896868 T
T
 A
A
 2 a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0009t0016g0271
a0001c0009t0016g0272
 2 HG01891.hp2
NA19240.hp1
HG01891.hp2
NA19240.hp1
 intron_variant MODIFIER c.899-11041A>T
c.899-11041A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78896868
chr5:78897046 T
T
 C
C
 2 a0001c0003t0007g0352
a0001c0003t0028g0348
a0001c0003t0007g0352
a0001c0003t0028g0348
 2 HG01891.hp1
HG03453.hp1
HG01891.hp1
HG03453.hp1
 intron_variant MODIFIER c.899-11219A>G
c.899-11219A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78897046
chr5:78897054 C
C
 CA
CA
 62 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(59): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0261
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0270
a0001c0003t0002g0338
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0005g0325
a0006c0020t0003g0127
 62 HG00438.hp1
HG00558.hp1
HG00741.hp1
others(59): Show 
HG00438.hp1
HG00558.hp1
HG00741.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01891.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02056.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03486.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03654.hp2
HG04115.hp2
HG04199.hp2
NA18942.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18963.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18979.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19011.hp2
NA19030.hp1
NA19077.hp2
NA19088.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.899-11228dupT
c.899-11228dupT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78897054
chr5:78897300 G
G
 A
A
 5 a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0003t0002g0262
others(2): Show 
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0003t0002g0262
a0001c0007t0004g0100
a0001c0007t0068g0111
 5 HG02451.hp2
HG02976.hp2
HG03041.hp2
others(2): Show 
HG02451.hp2
HG02976.hp2
HG03041.hp2
HG03516.hp2
HG03540.hp2
 intron_variant MODIFIER c.899-11473C>T
c.899-11473C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78897300
chr5:78897333 G
G
 C
C
 2 a0002c0002t0019g0303
a0002c0002t0030g0304
a0002c0002t0019g0303
a0002c0002t0030g0304
 2 NA18949.hp2
NA19068.hp2
NA18949.hp2
NA19068.hp2
 intron_variant MODIFIER c.899-11506C>G
c.899-11506C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78897333
chr5:78897369 C
C
 T
T
 1 a0001c0001t0019g0249
a0001c0001t0019g0249
 1 NA19011.hp2
NA19011.hp2
 intron_variant MODIFIER c.899-11542G>A
c.899-11542G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78897369
chr5:78897424 T
T
 C
C
 1 a0001c0001t0002g0005
a0001c0001t0002g0005
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.899-11597A>G
c.899-11597A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78897424
chr5:78897737 T
T
 C
C
 267 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(264): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0270
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0017t0002g0088
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 267 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(264): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp2
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02965.hp2
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-11910A>G
c.899-11910A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78897737
chr5:78897774 T
T
 C
C
 267 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(264): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0270
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0017t0002g0088
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 267 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(264): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp2
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02965.hp2
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-11947A>G
c.899-11947A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78897774
chr5:78897929 G
G
 A
A
 267 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(264): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0270
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0017t0002g0088
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 267 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(264): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp2
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02965.hp2
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-12102C>T
c.899-12102C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78897929
chr5:78897944 C
C
 G
G
 1 a0001c0001t0002g0092
a0001c0001t0002g0092
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.899-12117G>C
c.899-12117G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78897944
chr5:78897990 G
G
 A
A
 1 a0001c0005t0032g0117
a0001c0005t0032g0117
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.899-12163C>T
c.899-12163C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78897990
chr5:78898065 C
C
 T
T
 16 a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
others(13): Show 
a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0012g0177
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0060g0210
a0001c0021t0003g0358
 16 HG00544.hp2
HG01346.hp1
HG01943.hp2
others(13): Show 
HG00544.hp2
HG01346.hp1
HG01943.hp2
HG01981.hp2
HG02074.hp1
HG02738.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp1
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
 intron_variant MODIFIER c.899-12238G>A
c.899-12238G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78898065
chr5:78898070 C
C
 T
T
 1 a0001c0001t0003g0167
a0001c0001t0003g0167
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.899-12243G>A
c.899-12243G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78898070
chr5:78898096 C
C
 T
T
 36 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(33): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0338
a0001c0003t0014g0220
a0006c0020t0003g0127
 36 HG00558.hp1
HG01261.hp2
HG01943.hp1
others(33): Show 
HG00558.hp1
HG01261.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02056.hp2
HG02135.hp1
HG02155.hp2
HG03491.hp2
HG03492.hp2
HG03654.hp2
HG04115.hp2
HG04199.hp2
NA18942.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18963.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18979.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19011.hp2
NA19077.hp2
NA19088.hp2
 intron_variant MODIFIER c.899-12269G>A
c.899-12269G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78898096
chr5:78898168 G
G
 A
A
 1 a0001c0001t0006g0219
a0001c0001t0006g0219
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.899-12341C>T
c.899-12341C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78898168
chr5:78898819 G
G
 C
C
 309 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(306): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
 309 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(306): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-12992C>G
c.899-12992C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78898819
chr5:78898966 T
T
 C
C
 1 a0002c0002t0057g0284
a0002c0002t0057g0284
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.899-13139A>G
c.899-13139A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78898966
chr5:78899174 C
C
 T
T
 309 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(306): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
 309 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(306): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-13347G>A
c.899-13347G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78899174
chr5:78899192 A
A
 C
C
 4 a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
others(1): Show 
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
 4 HG01884.hp2
HG01891.hp2
HG03130.hp1
others(1): Show 
HG01884.hp2
HG01891.hp2
HG03130.hp1
NA19240.hp1
 intron_variant MODIFIER c.899-13365T>G
c.899-13365T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78899192
chr5:78899202 C
C
 T
T
 8 a0001c0003t0002g0276
a0001c0003t0006g0103
a0001c0003t0034g0071
others(5): Show 
a0001c0003t0002g0276
a0001c0003t0006g0103
a0001c0003t0034g0071
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0015t0027g0102
a0001c0022t0006g0359
a0005c0016t0002g0237
 8 HG02055.hp2
HG02559.hp1
HG02559.hp2
others(5): Show 
HG02055.hp2
HG02559.hp1
HG02559.hp2
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG03139.hp1
NA19043.hp2
 intron_variant MODIFIER c.899-13375G>A
c.899-13375G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78899202
chr5:78899416 G
G
 C
C
 2 a0001c0001t0003g0140
a0001c0001t0004g0083
a0001c0001t0003g0140
a0001c0001t0004g0083
 2 HG02129.hp2
HG02523.hp2
HG02129.hp2
HG02523.hp2
 intron_variant MODIFIER c.899-13589C>G
c.899-13589C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78899416
chr5:78899653 C
C
 A
A
 11 a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
others(8): Show 
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0022t0006g0359
a0005c0016t0002g0237
 11 HG02055.hp2
HG02258.hp1
HG02451.hp1
others(8): Show 
HG02055.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02723.hp1
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG03139.hp1
NA19043.hp2
 intron_variant MODIFIER c.899-13826G>T
c.899-13826G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78899653
chr5:78899676 A
A
 T
T
 1 a0001c0001t0006g0219
a0001c0001t0006g0219
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.899-13849T>A
c.899-13849T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78899676
chr5:78899989 A
A
 G
G
 309 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(306): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
 309 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(306): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-14162T>C
c.899-14162T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78899989
chr5:78900053 C
C
 G
G
 31 a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0003t0002g0074
others(28): Show 
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
 31 HG01109.hp2
HG01884.hp1
HG01884.hp2
others(28): Show 
HG01109.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp1
HG02109.hp1
HG02451.hp2
HG02622.hp1
HG02647.hp2
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp1
NA18906.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.899-14226G>C
c.899-14226G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78900053
chr5:78900078 T
T
 TG
TG
 8 a0001c0001t0002g0005
a0001c0001t0002g0261
a0001c0001t0004g0009
others(5): Show 
a0001c0001t0002g0005
a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0006g0219
a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0018g0057
 8 HG00741.hp1
HG01243.hp1
HG02717.hp1
others(5): Show 
HG00741.hp1
HG01243.hp1
HG02717.hp1
HG03098.hp2
HG03209.hp2
NA19030.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.899-14252dupC
c.899-14252dupC
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78900078
chr5:78900162 G
G
 A
A
 1 a0002c0002t0003g0068
a0002c0002t0003g0068
 1 NA19002.hp2
NA19002.hp2
 intron_variant MODIFIER c.899-14335C>T
c.899-14335C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78900162
chr5:78900189 G
G
 A
A
 2 a0001c0003t0015g0346
a0001c0003t0046g0343
a0001c0003t0015g0346
a0001c0003t0046g0343
 2 HG01069.hp1
HG03491.hp1
HG01069.hp1
HG03491.hp1
 intron_variant MODIFIER c.899-14362C>T
c.899-14362C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78900189
chr5:78900309 T
T
 G
G
 6 a0001c0001t0001g0236
a0001c0001t0002g0104
a0001c0001t0008g0223
others(3): Show 
a0001c0001t0001g0236
a0001c0001t0002g0104
a0001c0001t0008g0223
a0001c0001t0008g0297
a0001c0001t0011g0105
a0001c0001t0013g0170
 6 HG00280.hp1
NA18944.hp2
NA18959.hp1
others(3): Show 
HG00280.hp1
NA18944.hp2
NA18959.hp1
NA18983.hp2
NA19010.hp2
NA19066.hp1
 intron_variant MODIFIER c.899-14482A>C
c.899-14482A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78900309
chr5:78900313 T
T
 G
G
 1 a0003c0014t0015g0202
a0003c0014t0015g0202
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.899-14486A>C
c.899-14486A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78900313
chr5:78900689 T
T
 C
C
 11 a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
others(8): Show 
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0022t0006g0359
a0005c0016t0002g0237
 11 HG02055.hp2
HG02258.hp1
HG02451.hp1
others(8): Show 
HG02055.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02723.hp1
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG03139.hp1
NA19043.hp2
 intron_variant MODIFIER c.899-14862A>G
c.899-14862A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78900689
chr5:78900696 C
C
 T
T
 1 a0001c0001t0005g0235
a0001c0001t0005g0235
 1 HG00558.hp1
HG00558.hp1
 intron_variant MODIFIER c.899-14869G>A
c.899-14869G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78900696
chr5:78900768 A
A
 G
G
 11 a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
others(8): Show 
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0022t0006g0359
a0005c0016t0002g0237
 11 HG02055.hp2
HG02258.hp1
HG02451.hp1
others(8): Show 
HG02055.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02723.hp1
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG03139.hp1
NA19043.hp2
 intron_variant MODIFIER c.899-14941T>C
c.899-14941T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78900768
chr5:78900865 C
C
 T
T
 10 a0001c0001t0002g0005
a0001c0001t0002g0261
a0001c0001t0004g0009
others(7): Show 
a0001c0001t0002g0005
a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0018g0057
 10 HG00741.hp1
HG01243.hp1
HG02717.hp1
others(7): Show 
HG00741.hp1
HG01243.hp1
HG02717.hp1
HG02809.hp1
HG03098.hp2
HG03130.hp2
HG03209.hp2
NA19030.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.899-15038G>A
c.899-15038G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78900865
chr5:78900866 G
G
 C
C
 104 a0001c0001t0003g0021
a0001c0001t0003g0256
a0001c0001t0003g0257
others(101): Show 
a0001c0001t0003g0021
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0011g0046
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
 104 HG00099.hp1
HG00140.hp2
HG00408.hp1
others(101): Show 
HG00099.hp1
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02683.hp2
HG02698.hp1
HG02896.hp1
HG03225.hp1
HG03669.hp2
HG03710.hp1
HG03834.hp1
HG03942.hp2
HG04184.hp1
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18961.hp2
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18972.hp1
NA18975.hp1
NA18978.hp1
NA18979.hp1
NA18984.hp2
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18992.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA20129.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-15039C>G
c.899-15039C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78900866
chr5:78900912 G
G
 A
A
 267 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(264): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0270
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0017t0002g0088
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 267 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(264): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp2
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02965.hp2
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-15085C>T
c.899-15085C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78900912
chr5:78900937 G
G
 A
A
 2 a0001c0001t0001g0245
a0001c0001t0003g0339
a0001c0001t0001g0245
a0001c0001t0003g0339
 2 HG02135.hp1
NA18960.hp2
HG02135.hp1
NA18960.hp2
 intron_variant MODIFIER c.899-15110C>T
c.899-15110C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78900937
chr5:78900953 G
G
 A
A
 3 a0001c0001t0001g0315
a0001c0001t0003g0019
a0001c0001t0021g0347
a0001c0001t0001g0315
a0001c0001t0003g0019
a0001c0001t0021g0347
 3 NA18950.hp2
NA18963.hp1
NA19088.hp2
NA18950.hp2
NA18963.hp1
NA19088.hp2
 intron_variant MODIFIER c.899-15126C>T
c.899-15126C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78900953
chr5:78900981 G
G
 A
A
 60 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(57): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0005
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0261
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0270
a0001c0003t0002g0338
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
a0006c0020t0003g0127
 60 HG00558.hp1
HG00741.hp1
HG01243.hp1
others(57): Show 
HG00558.hp1
HG00741.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01891.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02056.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03098.hp2
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03486.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03654.hp2
HG04115.hp2
HG04199.hp2
NA18942.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18963.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18979.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19011.hp2
NA19030.hp1
NA19077.hp2
NA19088.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.899-15154C>T
c.899-15154C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78900981
chr5:78901024 G
G
 A
A
 2 a0001c0003t0007g0352
a0001c0003t0028g0348
a0001c0003t0007g0352
a0001c0003t0028g0348
 2 HG01891.hp1
HG03453.hp1
HG01891.hp1
HG03453.hp1
 intron_variant MODIFIER c.899-15197C>T
c.899-15197C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78901024
chr5:78901047 G
G
 GA
GA
 19 a0001c0001t0007g0115
a0001c0001t0010g0029
a0001c0003t0002g0101
others(16): Show 
a0001c0001t0007g0115
a0001c0001t0010g0029
a0001c0003t0002g0101
a0001c0003t0002g0276
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0012g0232
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0022t0006g0359
a0005c0016t0002g0237
 19 HG00733.hp1
HG01884.hp1
HG02055.hp2
others(16): Show 
HG00733.hp1
HG01884.hp1
HG02055.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG03139.hp1
HG03516.hp1
NA19043.hp2
NA19057.hp1
NA20300.hp1
 intron_variant MODIFIER c.899-15221dupT
c.899-15221dupT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78901047
chr5:78901047 G
G
 GAA
GAA
 234 a0001c0001t0001g0023
a0001c0001t0001g0027
a0001c0001t0001g0031
others(231): Show 
a0001c0001t0001g0023
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0002g0209
a0001c0001t0002g0261
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0007g0181
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0012g0177
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0060g0210
a0001c0007t0077g0070
a0001c0017t0002g0088
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 234 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(231): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01943.hp1
HG01943.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02280.hp2
HG02293.hp2
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19057.hp2
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-15222_899-1522
others(6): Show 
c.899-15222_899-15221dupTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78901047
chr5:78901047 G
G
 GAAA
GAAA
 29 a0001c0001t0001g0024
a0001c0001t0001g0110
a0001c0001t0001g0335
others(26): Show 
a0001c0001t0001g0024
a0001c0001t0001g0110
a0001c0001t0001g0335
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0005g0038
a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0001g0310
a0002c0002t0002g0295
a0002c0002t0005g0318
 29 HG00621.hp1
HG00741.hp1
HG01243.hp1
others(26): Show 
HG00621.hp1
HG00741.hp1
HG01243.hp1
HG01891.hp1
HG01952.hp1
HG01981.hp2
HG02074.hp2
HG02145.hp1
HG02523.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02698.hp2
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03540.hp1
HG03579.hp2
NA18972.hp2
NA18989.hp1
NA18994.hp2
NA18995.hp1
NA19062.hp1
NA21309.hp2
 intron_variant MODIFIER c.899-15223_899-1522
others(7): Show 
c.899-15223_899-15221dupTTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78901047
chr5:78901047 GA
GA
 G
G
 28 a0001c0007t0004g0100
a0003c0004t0001g0001
a0003c0004t0001g0124
others(25): Show 
a0001c0007t0004g0100
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
 29 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(26): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01952.hp2
HG01993.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02683.hp1
HG02735.hp2
HG02886.hp2
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03540.hp2
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.899-15221delT
c.899-15221delT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78901047
chr5:78901286 G
G
 A
A
 1 a0001c0001t0014g0189
a0001c0001t0014g0189
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.899-15459C>T
c.899-15459C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78901286
chr5:78901310 C
C
 T
T
 11 a0001c0001t0001g0087
a0001c0001t0002g0039
a0001c0001t0002g0209
others(8): Show 
a0001c0001t0001g0087
a0001c0001t0002g0039
a0001c0001t0002g0209
a0001c0001t0003g0064
a0001c0001t0003g0327
a0001c0001t0005g0038
a0001c0001t0005g0172
a0001c0001t0005g0208
a0001c0001t0008g0030
a0001c0001t0013g0329
a0001c0001t0014g0199
 11 HG00408.hp2
HG00423.hp1
HG00621.hp2
others(8): Show 
HG00408.hp2
HG00423.hp1
HG00621.hp2
HG01074.hp2
HG01106.hp2
HG01261.hp1
HG02132.hp1
HG02155.hp1
HG02523.hp1
NA18953.hp2
NA19009.hp2
 intron_variant MODIFIER c.899-15483G>A
c.899-15483G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78901310
chr5:78901557 C
C
 A
A
 22 a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
others(19): Show 
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0007t0036g0259
 22 HG01109.hp2
HG01884.hp1
HG02055.hp1
others(19): Show 
HG01109.hp2
HG01884.hp1
HG02055.hp1
HG02109.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG03195.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA18906.hp1
NA18906.hp2
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.899-15730G>T
c.899-15730G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78901557
chr5:78901595 T
T
 TA
TA
 117 a0001c0001t0001g0315
a0001c0001t0003g0019
a0001c0001t0003g0021
others(114): Show 
a0001c0001t0001g0315
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0008g0131
a0001c0001t0011g0046
a0001c0001t0021g0347
a0001c0003t0002g0270
a0001c0003t0006g0267
a0001c0003t0008g0116
a0001c0003t0031g0119
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
 117 HG00099.hp1
HG00140.hp2
HG00408.hp1
others(114): Show 
HG00099.hp1
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02293.hp2
HG02615.hp1
HG02615.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp2
HG02896.hp1
HG02965.hp2
HG03209.hp1
HG03225.hp1
HG03486.hp1
HG03540.hp1
HG03669.hp2
HG03710.hp1
HG03834.hp1
HG03942.hp2
HG04184.hp1
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18961.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18972.hp1
NA18975.hp1
NA18978.hp1
NA18979.hp1
NA18984.hp2
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18992.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19088.hp2
NA20129.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-15769dupT
c.899-15769dupT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78901595
chr5:78901956 A
A
 G
G
 2 a0001c0001t0003g0190
a0001c0001t0020g0146
a0001c0001t0003g0190
a0001c0001t0020g0146
 2 NA18961.hp1
NA19065.hp2
NA18961.hp1
NA19065.hp2
 intron_variant MODIFIER c.899-16129T>C
c.899-16129T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78901956
chr5:78902091 G
G
 A
A
 1 a0001c0001t0001g0236
a0001c0001t0001g0236
 1 NA18944.hp2
NA18944.hp2
 intron_variant MODIFIER c.899-16264C>T
c.899-16264C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78902091
chr5:78902363 T
T
 C
C
 33 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(30): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0317
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0093
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0171
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0338
a0001c0003t0014g0220
a0006c0020t0003g0127
 33 HG00438.hp2
HG00558.hp1
HG01261.hp2
others(30): Show 
HG00438.hp2
HG00558.hp1
HG01261.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02056.hp2
HG02135.hp1
HG02155.hp2
HG03491.hp2
HG03492.hp2
HG03654.hp2
HG04115.hp2
HG04199.hp2
NA18942.hp1
NA18948.hp2
NA18950.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18979.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19011.hp2
NA19077.hp2
 intron_variant MODIFIER c.899-16536A>G
c.899-16536A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78902363
chr5:78902680 T
T
 C
C
 16 a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
others(13): Show 
a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0012g0177
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0060g0210
a0001c0021t0003g0358
 16 HG00544.hp2
HG01346.hp1
HG01943.hp2
others(13): Show 
HG00544.hp2
HG01346.hp1
HG01943.hp2
HG01981.hp2
HG02074.hp1
HG02738.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp1
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
 intron_variant MODIFIER c.899-16853A>G
c.899-16853A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78902680
chr5:78902689 C
C
 A
A
 16 a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
others(13): Show 
a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0012g0177
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0060g0210
a0001c0021t0003g0358
 16 HG00544.hp2
HG01346.hp1
HG01943.hp2
others(13): Show 
HG00544.hp2
HG01346.hp1
HG01943.hp2
HG01981.hp2
HG02074.hp1
HG02738.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp1
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
 intron_variant MODIFIER c.899-16862G>T
c.899-16862G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78902689
chr5:78902698 C
C
 T
T
 271 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(268): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0270
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0017t0002g0088
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 271 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(268): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp2
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02965.hp2
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-16871G>A
c.899-16871G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78902698
chr5:78902986 C
C
 T
T
 1 a0002c0002t0006g0205
a0002c0002t0006g0205
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.899-17159G>A
c.899-17159G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78902986
chr5:78903152 G
G
 A
A
 2 a0001c0001t0001g0321
a0001c0003t0002g0320
a0001c0001t0001g0321
a0001c0003t0002g0320
 2 HG02071.hp1
NA19074.hp1
HG02071.hp1
NA19074.hp1
 intron_variant MODIFIER c.899-17325C>T
c.899-17325C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78903152
chr5:78903257 A
A
 G
G
 13 a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
others(10): Show 
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0342
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0015g0346
a0001c0003t0025g0341
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0007c0012t0032g0180
 13 HG01069.hp1
HG01074.hp1
HG01167.hp2
others(10): Show 
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01192.hp1
HG01981.hp1
HG02258.hp2
HG03041.hp1
HG03195.hp2
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.899-17430T>C
c.899-17430T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78903257
chr5:78903547 G
G
 A
A
 2 a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0011
a0001c0003t0007g0012
 2 HG02896.hp2
HG02897.hp2
HG02896.hp2
HG02897.hp2
 intron_variant MODIFIER c.899-17720C>T
c.899-17720C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78903547
chr5:78903631 C
C
 A
A
 271 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(268): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0270
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0017t0002g0088
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 271 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(268): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp2
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02965.hp2
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-17804G>T
c.899-17804G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78903631
chr5:78903700 G
G
 A
A
 271 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(268): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0270
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0017t0002g0088
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 271 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(268): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp2
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02965.hp2
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-17873C>T
c.899-17873C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78903700
chr5:78903853 T
T
 A
A
 271 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(268): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0270
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0017t0002g0088
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 271 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(268): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp2
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02965.hp2
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-18026A>T
c.899-18026A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78903853
chr5:78903910 A
A
 G
G
 358 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(355): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 359 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(356): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-18083T>C
c.899-18083T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78903910
chr5:78903924 T
T
 C
C
 3 a0001c0001t0001g0289
a0001c0001t0007g0181
a0001c0001t0040g0288
a0001c0001t0001g0289
a0001c0001t0007g0181
a0001c0001t0040g0288
 3 HG02738.hp2
HG03654.hp1
HG03942.hp1
HG02738.hp2
HG03654.hp1
HG03942.hp1
 intron_variant MODIFIER c.899-18097A>G
c.899-18097A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78903924
chr5:78903970 T
T
 C
C
 11 a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
others(8): Show 
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0022t0006g0359
a0005c0016t0002g0237
 11 HG02055.hp2
HG02258.hp1
HG02451.hp1
others(8): Show 
HG02055.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02723.hp1
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG03139.hp1
NA19043.hp2
 intron_variant MODIFIER c.899-18143A>G
c.899-18143A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78903970
chr5:78904092 A
A
 AGT
AGT
 3 a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0007t0068g0111
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0007t0068g0111
 3 HG02976.hp2
HG03041.hp2
HG03516.hp2
HG02976.hp2
HG03041.hp2
HG03516.hp2
 intron_variant MODIFIER c.899-18267_899-1826
others(6): Show 
c.899-18267_899-18266dupAC
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78904092
chr5:78904297 T
T
 C
C
 13 a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
others(10): Show 
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0342
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0015g0346
a0001c0003t0025g0341
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0007c0012t0032g0180
 13 HG01069.hp1
HG01074.hp1
HG01167.hp2
others(10): Show 
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01192.hp1
HG01981.hp1
HG02258.hp2
HG03041.hp1
HG03195.hp2
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.899-18470A>G
c.899-18470A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78904297
chr5:78904362 C
C
 T
T
 271 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(268): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0270
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0017t0002g0088
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 271 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(268): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp2
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02965.hp2
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-18535G>A
c.899-18535G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78904362
chr5:78904378 AT
AT
 A
A
 17 a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
others(14): Show 
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0022t0006g0359
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
 17 HG00323.hp1
HG01258.hp1
HG01358.hp1
others(14): Show 
HG00323.hp1
HG01258.hp1
HG01358.hp1
HG01496.hp2
HG02055.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG03139.hp1
NA19043.hp2
 intron_variant MODIFIER c.899-18552delA
c.899-18552delA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78904378
chr5:78904476 T
T
 C
C
 272 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(269): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0270
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0017t0002g0088
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 272 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(269): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp2
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02965.hp2
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-18649A>G
c.899-18649A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78904476
chr5:78904678 T
T
 C
C
 271 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(268): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0270
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0017t0002g0088
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 271 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(268): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp2
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02965.hp2
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-18851A>G
c.899-18851A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78904678
chr5:78904685 CT
CT
 C
C
 8 a0001c0001t0006g0219
a0001c0001t0018g0130
a0001c0003t0002g0262
others(5): Show 
a0001c0001t0006g0219
a0001c0001t0018g0130
a0001c0003t0002g0262
a0001c0003t0018g0057
a0001c0003t0041g0155
a0001c0007t0068g0111
a0002c0002t0002g0312
a0003c0004t0023g0148
 8 HG00323.hp2
HG01070.hp1
HG02451.hp2
others(5): Show 
HG00323.hp2
HG01070.hp1
HG02451.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp2
NA18612.hp2
NA20129.hp2
 intron_variant MODIFIER c.899-18859delA
c.899-18859delA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78904685
chr5:78904685 CTT
CTT
 C
C
 290 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(287): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0036g0259
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
 290 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(287): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-18860_899-1885
others(6): Show 
c.899-18860_899-18859delAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78904685
chr5:78904685 CTTT
CTTT
 C
C
 15 a0001c0001t0001g0134
a0001c0001t0003g0214
a0001c0001t0004g0058
others(12): Show 
a0001c0001t0001g0134
a0001c0001t0003g0214
a0001c0001t0004g0058
a0001c0001t0004g0328
a0001c0001t0005g0235
a0001c0001t0008g0036
a0001c0001t0010g0107
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0003t0001g0048
a0001c0003t0016g0258
a0001c0005t0035g0165
a0002c0002t0003g0197
a0002c0002t0005g0340
a0002c0002t0009g0121
 15 HG00558.hp1
HG01070.hp2
HG01943.hp1
others(12): Show 
HG00558.hp1
HG01070.hp2
HG01943.hp1
HG02559.hp2
HG02698.hp2
HG03017.hp1
HG03098.hp1
HG03195.hp1
NA18947.hp1
NA18959.hp1
NA18962.hp2
NA18969.hp1
NA18984.hp1
NA18985.hp2
NA19003.hp2
 intron_variant MODIFIER c.899-18861_899-1885
others(7): Show 
c.899-18861_899-18859delAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78904685
chr5:78904793 A
A
 G
G
 271 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(268): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0270
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0017t0002g0088
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 271 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(268): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp2
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02965.hp2
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-18966T>C
c.899-18966T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78904793
chr5:78904826 C
C
 T
T
 1 a0003c0014t0015g0202
a0003c0014t0015g0202
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.899-18999G>A
c.899-18999G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78904826
chr5:78904827 G
G
 A
A
 271 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(268): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0270
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0017t0002g0088
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 271 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(268): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp2
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02965.hp2
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-19000C>T
c.899-19000C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78904827
chr5:78905030 G
G
 A
A
 106 a0001c0001t0001g0315
a0001c0001t0003g0019
a0001c0001t0003g0021
others(103): Show 
a0001c0001t0001g0315
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0008g0131
a0001c0001t0011g0046
a0001c0001t0021g0347
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
 106 HG00099.hp1
HG00140.hp2
HG00408.hp1
others(103): Show 
HG00099.hp1
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02683.hp2
HG02698.hp1
HG02896.hp1
HG03225.hp1
HG03669.hp2
HG03710.hp1
HG03834.hp1
HG03942.hp2
HG04184.hp1
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18961.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp1
NA18972.hp1
NA18975.hp1
NA18978.hp1
NA18979.hp1
NA18984.hp2
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18992.hp1
NA18993.hp2
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19088.hp2
NA20129.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-19203C>T
c.899-19203C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78905030
chr5:78905217 T
T
 C
C
 2 a0001c0001t0001g0321
a0001c0003t0002g0320
a0001c0001t0001g0321
a0001c0003t0002g0320
 2 HG02071.hp1
NA19074.hp1
HG02071.hp1
NA19074.hp1
 intron_variant MODIFIER c.899-19390A>G
c.899-19390A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78905217
chr5:78905282 C
C
 T
T
 3 a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0007t0036g0259
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0007t0036g0259
 3 HG02818.hp2
HG02922.hp1
HG03195.hp1
HG02818.hp2
HG02922.hp1
HG03195.hp1
 intron_variant MODIFIER c.899-19455G>A
c.899-19455G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78905282
chr5:78905337 T
T
 C
C
 106 a0001c0001t0001g0315
a0001c0001t0003g0019
a0001c0001t0003g0021
others(103): Show 
a0001c0001t0001g0315
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0008g0131
a0001c0001t0011g0046
a0001c0001t0021g0347
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
 106 HG00099.hp1
HG00140.hp2
HG00408.hp1
others(103): Show 
HG00099.hp1
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02683.hp2
HG02698.hp1
HG02896.hp1
HG03225.hp1
HG03669.hp2
HG03710.hp1
HG03834.hp1
HG03942.hp2
HG04184.hp1
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18961.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp1
NA18972.hp1
NA18975.hp1
NA18978.hp1
NA18979.hp1
NA18984.hp2
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18992.hp1
NA18993.hp2
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19088.hp2
NA20129.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-19510A>G
c.899-19510A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78905337
chr5:78905344 G
G
 GTTTTTTT
GTTTTTTT
 35 a0001c0001t0001g0245
a0001c0001t0003g0034
a0001c0001t0003g0214
others(32): Show 
a0001c0001t0001g0245
a0001c0001t0003g0034
a0001c0001t0003g0214
a0001c0001t0003g0339
a0001c0001t0005g0195
a0001c0001t0007g0115
a0001c0001t0007g0333
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0031g0324
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0060g0210
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0074g0073
a0002c0002t0004g0096
a0002c0002t0004g0097
 35 HG00544.hp2
HG01109.hp2
HG01346.hp1
others(32): Show 
HG00544.hp2
HG01109.hp2
HG01346.hp1
HG01884.hp1
HG01943.hp2
HG02109.hp1
HG02135.hp1
HG02622.hp1
HG02698.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp2
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03516.hp1
HG03579.hp1
NA18906.hp1
NA18947.hp1
NA18947.hp2
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19001.hp1
NA19010.hp1
NA19063.hp1
NA19085.hp1
NA20300.hp1
 intron_variant MODIFIER c.899-19524_899-1951
others(11): Show 
c.899-19524_899-19518dupAAAAAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78905344
chr5:78905344 G
G
 GTTTTTTT
others(1): Show 
GTTTTTTTT
 132 a0001c0001t0001g0035
a0001c0001t0001g0110
a0001c0001t0001g0135
others(129): Show 
a0001c0001t0001g0035
a0001c0001t0001g0110
a0001c0001t0001g0135
a0001c0001t0001g0263
a0001c0001t0001g0315
a0001c0001t0001g0335
a0001c0001t0002g0104
a0001c0001t0002g0145
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0093
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0146
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0002g0078
a0001c0003t0002g0253
a0001c0003t0002g0338
a0001c0003t0014g0220
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0075g0112
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0306
a0002c0002t0005g0042
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0081
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0030g0037
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0006c0020t0003g0127
 132 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(129): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02056.hp2
HG02074.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02155.hp2
HG02293.hp2
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02738.hp1
HG02895.hp1
HG02896.hp1
HG02976.hp1
HG03225.hp1
HG03491.hp2
HG03492.hp2
HG03654.hp2
HG03669.hp2
HG03710.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19010.hp2
NA19011.hp2
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19065.hp1
NA19066.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19088.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-19525_899-1951
others(12): Show 
c.899-19525_899-19518dupAAAAAAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78905344
chr5:78905344 G
G
 GTTTTTTT
others(2): Show 
GTTTTTTTTT
 86 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(83): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0062
a0001c0001t0001g0087
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0321
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0009
a0001c0001t0004g0083
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0250
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0065
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0010g0029
a0001c0001t0010g0141
a0001c0001t0011g0026
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0020g0028
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0034g0072
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0065g0017
a0001c0003t0018g0057
a0001c0007t0077g0070
a0001c0017t0002g0088
a0002c0002t0001g0310
a0002c0002t0002g0295
a0002c0002t0003g0247
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0192
a0002c0002t0007g0044
a0002c0002t0007g0313
a0002c0002t0026g0176
a0002c0002t0063g0198
a0002c0011t0053g0002
a0002c0013t0017g0015
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
 86 HG00140.hp1
HG00323.hp1
HG00408.hp2
others(83): Show 
HG00140.hp1
HG00323.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp1
HG00621.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp2
HG01071.hp2
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01243.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01978.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02280.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02717.hp1
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp1
HG03098.hp2
HG03209.hp2
HG03453.hp2
HG03579.hp2
HG03654.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
NA18747.hp1
NA18747.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18952.hp2
NA18953.hp2
NA18962.hp2
NA18968.hp2
NA18978.hp2
NA18983.hp1
NA18984.hp1
NA18989.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19001.hp2
NA19002.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp2
NA19074.hp1
NA19077.hp2
NA19088.hp1
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.899-19526_899-1951
others(13): Show 
c.899-19526_899-19518dupAAAAAAAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78905344
chr5:78905344 G
G
 GTTTTTTT
others(3): Show 
GTTTTTTTTTT
 16 a0001c0001t0001g0084
a0001c0001t0001g0168
a0001c0001t0001g0305
others(13): Show 
a0001c0001t0001g0084
a0001c0001t0001g0168
a0001c0001t0001g0305
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0007g0181
a0001c0001t0008g0113
a0001c0001t0014g0199
a0001c0001t0024g0182
a0001c0003t0002g0320
a0001c0003t0006g0254
a0002c0002t0003g0319
a0002c0002t0006g0191
 16 HG00423.hp1
HG01074.hp2
HG01361.hp2
others(13): Show 
HG00423.hp1
HG01074.hp2
HG01361.hp2
HG01975.hp2
HG01993.hp1
HG02027.hp2
HG02071.hp1
HG02135.hp2
HG03098.hp1
HG03139.hp2
HG03942.hp1
NA18948.hp1
NA19011.hp1
NA19077.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.899-19527_899-1951
others(14): Show 
c.899-19527_899-19518dupAAAAAAAAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78905344
chr5:78905344 GT
GT
 G
G
 23 a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0003t0002g0262
others(20): Show 
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0003t0002g0262
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0022t0006g0359
a0005c0016t0002g0237
 23 HG01884.hp2
HG01891.hp2
HG02055.hp2
others(20): Show 
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03516.hp2
HG03540.hp2
NA19043.hp2
NA19240.hp1
 intron_variant MODIFIER c.899-19518delA
c.899-19518delA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78905344
chr5:78905439 G
G
 C
C
 49 a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0287
others(46): Show 
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
 49 HG00423.hp2
HG00438.hp1
HG00609.hp2
others(46): Show 
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01517.hp1
HG01975.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG03669.hp2
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-19612C>G
c.899-19612C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78905439
chr5:78905494 C
C
 T
T
 1 a0002c0002t0007g0081
a0002c0002t0007g0081
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.899-19667G>A
c.899-19667G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78905494
chr5:78905645 C
C
 T
T
 1 a0001c0005t0017g0010
a0001c0005t0017g0010
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.899-19818G>A
c.899-19818G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78905645
chr5:78905910 C
C
 CA
CA
 41 a0001c0001t0001g0023
a0001c0001t0001g0084
a0001c0001t0001g0134
others(38): Show 
a0001c0001t0001g0023
a0001c0001t0001g0084
a0001c0001t0001g0134
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0003g0064
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0307
a0001c0001t0004g0083
a0001c0001t0005g0171
a0001c0001t0010g0141
a0001c0001t0013g0329
a0001c0001t0020g0146
a0001c0001t0024g0182
a0001c0003t0001g0344
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0276
a0001c0003t0002g0342
a0001c0003t0006g0212
a0001c0003t0007g0132
a0001c0003t0015g0346
a0001c0003t0028g0348
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0005t0035g0165
a0003c0004t0004g0122
a0003c0004t0004g0150
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0033g0282
a0004c0006t0004g0188
 41 HG00438.hp2
HG00738.hp2
HG01069.hp1
others(38): Show 
HG00438.hp2
HG00738.hp2
HG01069.hp1
HG01070.hp1
HG01192.hp1
HG01261.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01891.hp1
HG01952.hp2
HG01981.hp1
HG02027.hp2
HG02080.hp2
HG02129.hp2
HG02135.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02698.hp2
HG02738.hp2
HG03041.hp1
HG03491.hp1
HG03579.hp2
HG03710.hp2
HG03927.hp1
HG04115.hp1
HG04204.hp2
NA18944.hp2
NA18946.hp2
NA18953.hp2
NA18961.hp1
NA18984.hp1
NA19001.hp2
NA19030.hp2
NA19063.hp2
NA19065.hp2
NA19088.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.899-20084dupT
c.899-20084dupT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78905910
chr5:78905910 C
C
 CAA
CAA
 10 a0001c0001t0001g0087
a0001c0001t0005g0172
a0001c0001t0008g0286
others(7): Show 
a0001c0001t0001g0087
a0001c0001t0005g0172
a0001c0001t0008g0286
a0001c0001t0013g0170
a0001c0003t0006g0103
a0001c0003t0034g0071
a0001c0005t0032g0117
a0001c0015t0027g0102
a0001c0022t0006g0359
a0007c0012t0032g0180
 10 HG00408.hp2
HG01074.hp1
HG01106.hp2
others(7): Show 
HG00408.hp2
HG01074.hp1
HG01106.hp2
HG02055.hp2
HG02056.hp1
HG02922.hp2
HG02965.hp1
HG03139.hp1
NA18959.hp1
NA19043.hp2
 intron_variant MODIFIER c.899-20085_899-2008
others(6): Show 
c.899-20085_899-20084dupTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78905910
chr5:78905910 C
C
 CAAA
CAAA
 6 a0001c0003t0002g0354
a0001c0003t0035g0357
a0001c0005t0076g0268
others(3): Show 
a0001c0003t0002g0354
a0001c0003t0035g0357
a0001c0005t0076g0268
a0001c0009t0016g0271
a0001c0018t0002g0016
a0001c0019t0022g0233
 6 HG01884.hp2
HG02258.hp1
HG02451.hp1
others(3): Show 
HG01884.hp2
HG02258.hp1
HG02451.hp1
HG02723.hp1
HG03130.hp1
NA19240.hp1
 intron_variant MODIFIER c.899-20086_899-2008
others(7): Show 
c.899-20086_899-20084dupTTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78905910
chr5:78905910 CA
CA
 C
C
 6 a0001c0001t0008g0036
a0001c0003t0016g0258
a0001c0003t0018g0260
others(3): Show 
a0001c0001t0008g0036
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0007t0036g0259
 6 HG02818.hp2
HG02895.hp2
HG02922.hp1
others(3): Show 
HG02818.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp2
HG03195.hp1
NA18962.hp2
 intron_variant MODIFIER c.899-20084delT
c.899-20084delT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78905910
chr5:78905910 CAAAAAAA
others(2): Show 
CAAAAAAAAA
 C
C
 97 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(94): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0005
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0338
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0074g0073
a0001c0005t0075g0112
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0006g0014
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0064g0285
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0006c0020t0003g0127
 97 HG00408.hp1
HG00544.hp1
HG00558.hp1
others(94): Show 
HG00408.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG01109.hp2
HG01192.hp2
HG01261.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02135.hp1
HG02155.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp2
HG02723.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02976.hp1
HG03225.hp1
HG03471.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03579.hp1
HG03654.hp2
HG03834.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp2
NA18942.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA18995.hp1
NA19002.hp1
NA19003.hp1
NA19011.hp2
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19077.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp2
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA21309.hp1
 intron_variant MODIFIER c.899-20092_899-2008
others(13): Show 
c.899-20092_899-20084delTTTTTTTTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78905910
chr5:78905910 CAAAAAAA
others(3): Show 
CAAAAAAAAAA
 C
C
 87 a0001c0001t0001g0335
a0001c0001t0002g0261
a0001c0001t0004g0009
others(84): Show 
a0001c0001t0001g0335
a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0005g0195
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0018g0130
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0012g0177
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0060g0210
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
 87 HG00099.hp1
HG00140.hp2
HG00423.hp2
others(84): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01517.hp1
HG01943.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02004.hp1
HG02074.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02698.hp1
HG02717.hp1
HG02738.hp1
HG02809.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03209.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp2
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19030.hp1
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19084.hp2
NA19085.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-20093_899-2008
others(14): Show 
c.899-20093_899-20084delTTTTTTTTTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78905910
chr5:78905968 C
C
 T
T
 16 a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
others(13): Show 
a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0012g0177
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0060g0210
a0001c0021t0003g0358
 16 HG00544.hp2
HG01346.hp1
HG01943.hp2
others(13): Show 
HG00544.hp2
HG01346.hp1
HG01943.hp2
HG01981.hp2
HG02074.hp1
HG02738.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp1
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
 intron_variant MODIFIER c.899-20141G>A
c.899-20141G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78905968
chr5:78906010 C
C
 G
G
 182 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(179): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0261
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0338
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0006c0020t0003g0127
 182 HG00099.hp1
HG00140.hp2
HG00408.hp1
others(179): Show 
HG00099.hp1
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01257.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG01943.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp2
HG02293.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02976.hp1
HG03098.hp2
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03579.hp1
HG03654.hp2
HG03669.hp2
HG03710.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18993.hp2
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19057.hp2
NA19062.hp2
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-20183G>C
c.899-20183G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78906010
chr5:78906027 A
A
 G
G
 3 a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0007t0036g0259
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0007t0036g0259
 3 HG02818.hp2
HG02922.hp1
HG03195.hp1
HG02818.hp2
HG02922.hp1
HG03195.hp1
 intron_variant MODIFIER c.899-20200T>C
c.899-20200T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78906027
chr5:78906028 A
A
 G
G
 11 a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
others(8): Show 
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0022t0006g0359
a0005c0016t0002g0237
 11 HG02055.hp2
HG02258.hp1
HG02451.hp1
others(8): Show 
HG02055.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02723.hp1
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG03139.hp1
NA19043.hp2
 intron_variant MODIFIER c.899-20201T>C
c.899-20201T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78906028
chr5:78906096 A
A
 T
T
 89 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(86): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0321
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0208
a0001c0001t0007g0181
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0141
a0001c0001t0011g0026
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0065g0017
a0001c0003t0002g0320
a0001c0003t0006g0254
a0001c0007t0077g0070
a0001c0017t0002g0088
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
 89 HG00140.hp1
HG00280.hp1
HG00323.hp1
others(86): Show 
HG00140.hp1
HG00280.hp1
HG00323.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00609.hp1
HG00621.hp2
HG00738.hp1
HG01069.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01175.hp1
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01952.hp1
HG01993.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02280.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp1
HG03098.hp1
HG03139.hp2
HG03453.hp2
HG03579.hp2
HG03654.hp1
HG03834.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
NA18747.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18952.hp2
NA18953.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp1
NA18962.hp2
NA18968.hp2
NA18978.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA19001.hp2
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19088.hp1
NA21309.hp2
 intron_variant MODIFIER c.899-20269T>A
c.899-20269T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78906096
chr5:78906168 T
T
 A
A
 1 a0001c0001t0003g0093
a0001c0001t0003g0093
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.899-20341A>T
c.899-20341A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78906168
chr5:78906169 TA
TA
 T
T
 126 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(123): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0261
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0076
a0001c0001t0005g0195
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0338
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0056
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0006g0014
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0004c0006t0016g0221
a0006c0020t0003g0127
 126 HG00408.hp1
HG00544.hp1
HG00544.hp2
others(123): Show 
HG00408.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00741.hp1
HG01069.hp2
HG01109.hp2
HG01243.hp1
HG01261.hp2
HG01346.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02135.hp1
HG02155.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02976.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03579.hp1
HG03654.hp2
HG03834.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18942.hp1
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18968.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19062.hp2
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19077.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA21309.hp1
 intron_variant MODIFIER c.899-20343delT
c.899-20343delT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78906169
chr5:78906202 G
G
 A
A
 1 a0001c0003t0006g0254
a0001c0003t0006g0254
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.899-20375C>T
c.899-20375C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78906202
chr5:78906207 A
A
 C
C
 354 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(351): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 355 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(352): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-20380T>G
c.899-20380T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78906207
chr5:78906305 C
C
 T
T
 1 a0002c0002t0071g0280
a0002c0002t0071g0280
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.899-20478G>A
c.899-20478G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78906305
chr5:78906512 G
G
 A
A
 4 a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
others(1): Show 
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
 4 HG01884.hp2
HG01891.hp2
HG03130.hp1
others(1): Show 
HG01884.hp2
HG01891.hp2
HG03130.hp1
NA19240.hp1
 intron_variant MODIFIER c.899-20685C>T
c.899-20685C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78906512
chr5:78906593 A
A
 G
G
 53 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(50): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0002g0005
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0261
a0001c0001t0002g0317
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0008g0040
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0262
a0001c0003t0002g0276
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0022t0006g0359
a0005c0016t0002g0237
a0006c0020t0003g0127
 53 HG00558.hp1
HG00741.hp1
HG01243.hp1
others(50): Show 
HG00558.hp1
HG00741.hp1
HG01243.hp1
HG01261.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02055.hp2
HG02056.hp2
HG02135.hp1
HG02155.hp2
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02717.hp1
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03491.hp2
HG03492.hp2
HG03654.hp2
HG04115.hp2
NA18942.hp1
NA18948.hp2
NA18950.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18979.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19077.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.899-20766T>C
c.899-20766T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78906593
chr5:78906671 G
G
 A
A
 4 a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0007t0004g0100
others(1): Show 
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0007t0004g0100
a0001c0007t0068g0111
 4 HG02976.hp2
HG03041.hp2
HG03516.hp2
others(1): Show 
HG02976.hp2
HG03041.hp2
HG03516.hp2
HG03540.hp2
 intron_variant MODIFIER c.899-20844C>T
c.899-20844C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78906671
chr5:78906893 A
A
 T
T
 2 a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0043g0090
a0001c0001t0044g0091
 2 HG00741.hp1
NA19030.hp1
HG00741.hp1
NA19030.hp1
 intron_variant MODIFIER c.899-21066T>A
c.899-21066T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78906893
chr5:78907003 A
A
 G
G
 152 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(149): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0065g0017
a0001c0003t0001g0344
a0001c0003t0002g0160
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0006g0103
a0001c0003t0006g0254
a0001c0003t0007g0132
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0018g0057
a0001c0003t0025g0341
a0001c0003t0034g0071
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0007t0077g0070
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 152 HG00140.hp1
HG00280.hp1
HG00323.hp1
others(149): Show 
HG00140.hp1
HG00280.hp1
HG00323.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01243.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01943.hp1
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02280.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02922.hp2
HG02965.hp1
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04204.hp2
NA18747.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18948.hp2
NA18950.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18968.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA19001.hp2
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19088.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.899-21176T>C
c.899-21176T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78907003
chr5:78907038 C
C
 T
T
 4 a0001c0003t0002g0262
a0002c0002t0006g0014
a0002c0002t0052g0098
others(1): Show 
a0001c0003t0002g0262
a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
 4 HG01496.hp1
HG02451.hp2
HG02896.hp1
others(1): Show 
HG01496.hp1
HG02451.hp2
HG02896.hp1
HG03225.hp1
 intron_variant MODIFIER c.899-21211G>A
c.899-21211G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78907038
chr5:78907049 T
T
 G
G
 1 a0001c0005t0017g0003
a0001c0005t0017g0003
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.899-21222A>C
c.899-21222A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78907049
chr5:78907111 A
A
 AG
AG
 91 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(88): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0317
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0009g0226
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0270
a0001c0003t0002g0338
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0003g0025
a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0013t0017g0015
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0006c0020t0003g0127
 91 HG00099.hp2
HG00280.hp2
HG00558.hp1
others(88): Show 
HG00099.hp2
HG00280.hp2
HG00558.hp1
HG00673.hp2
HG00733.hp1
HG01109.hp2
HG01168.hp2
HG01243.hp2
HG01255.hp2
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01496.hp1
HG01884.hp1
HG01891.hp1
HG01975.hp1
HG02055.hp1
HG02056.hp2
HG02109.hp1
HG02129.hp1
HG02135.hp1
HG02155.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03927.hp2
HG04115.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp1
NA18948.hp2
NA18950.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18979.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19011.hp2
NA19043.hp1
NA19077.hp2
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.899-21285_899-2128
others(5): Show 
c.899-21285_899-21284insC
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78907111
chr5:78907145 C
C
 T
T
 85 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(82): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0317
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0009g0226
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0270
a0001c0003t0002g0338
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0005t0074g0073
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0003g0025
a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0006c0020t0003g0127
 85 HG00099.hp2
HG00280.hp2
HG00558.hp1
others(82): Show 
HG00099.hp2
HG00280.hp2
HG00558.hp1
HG00673.hp2
HG00733.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp2
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01496.hp1
HG01884.hp1
HG01891.hp1
HG01975.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02129.hp1
HG02135.hp1
HG02155.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02717.hp2
HG02723.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG03017.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03927.hp2
HG04115.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp1
NA18948.hp2
NA18950.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18979.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19011.hp2
NA19043.hp1
NA19077.hp2
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.899-21318G>A
c.899-21318G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78907145
chr5:78907146 G
G
 A
A
 4 a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0007t0004g0100
others(1): Show 
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0007t0004g0100
a0001c0007t0068g0111
 4 HG02976.hp2
HG03041.hp2
HG03516.hp2
others(1): Show 
HG02976.hp2
HG03041.hp2
HG03516.hp2
HG03540.hp2
 intron_variant MODIFIER c.899-21319C>T
c.899-21319C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78907146
chr5:78907152 C
C
 T
T
 1 a0002c0002t0003g0025
a0002c0002t0003g0025
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.899-21325G>A
c.899-21325G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78907152
chr5:78907201 T
T
 C
C
 63 a0001c0001t0003g0093
a0001c0003t0058g0045
a0002c0002t0001g0054
others(60): Show 
a0001c0001t0003g0093
a0001c0003t0058g0045
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
 64 HG00423.hp2
HG00438.hp1
HG00609.hp2
others(61): Show 
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01070.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01255.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01433.hp2
HG01517.hp1
HG01952.hp2
HG01975.hp2
HG01993.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02683.hp1
HG02735.hp2
HG03669.hp2
HG03927.hp1
HG04199.hp2
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-21374A>G
c.899-21374A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78907201
chr5:78907223 G
G
 A
A
 7 a0001c0003t0002g0276
a0001c0003t0006g0103
a0001c0003t0034g0071
others(4): Show 
a0001c0003t0002g0276
a0001c0003t0006g0103
a0001c0003t0034g0071
a0001c0005t0032g0117
a0001c0015t0027g0102
a0001c0022t0006g0359
a0005c0016t0002g0237
 7 HG02055.hp2
HG02559.hp1
HG02809.hp2
others(4): Show 
HG02055.hp2
HG02559.hp1
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG03139.hp1
NA19043.hp2
 intron_variant MODIFIER c.899-21396C>T
c.899-21396C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78907223
chr5:78907283 C
C
 T
T
 1 a0001c0003t0056g0022
a0001c0003t0056g0022
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.899-21456G>A
c.899-21456G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78907283
chr5:78907313 G
G
 A
A
 3 a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
 3 HG01496.hp1
HG02896.hp1
HG03225.hp1
HG01496.hp1
HG02896.hp1
HG03225.hp1
 intron_variant MODIFIER c.899-21486C>T
c.899-21486C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78907313
chr5:78907396 G
G
 C
C
 5 a0001c0001t0002g0005
a0001c0001t0002g0261
a0001c0001t0004g0009
others(2): Show 
a0001c0001t0002g0005
a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0006g0219
a0001c0003t0018g0057
 5 HG02717.hp1
HG03098.hp2
HG03209.hp2
others(2): Show 
HG02717.hp1
HG03098.hp2
HG03209.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.899-21569C>G
c.899-21569C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78907396
chr5:78907532 G
G
 A
A
 1 a0001c0001t0003g0327
a0001c0001t0003g0327
 1 HG00621.hp2
HG00621.hp2
 intron_variant MODIFIER c.899-21705C>T
c.899-21705C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78907532
chr5:78907630 T
T
 C
C
 121 a0001c0001t0001g0335
a0001c0001t0004g0278
a0001c0001t0005g0195
others(118): Show 
a0001c0001t0001g0335
a0001c0001t0004g0278
a0001c0001t0005g0195
a0001c0001t0007g0333
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0352
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0048g0266
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0007t0036g0259
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
 121 HG00099.hp1
HG00140.hp2
HG00423.hp2
others(118): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02004.hp1
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02258.hp2
HG02293.hp2
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02738.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp2
HG03710.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19084.hp2
NA19085.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-21803A>G
c.899-21803A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78907630
chr5:78907712 C
C
 T
T
 102 a0001c0001t0004g0278
a0001c0003t0002g0074
a0001c0003t0002g0078
others(99): Show 
a0001c0001t0004g0278
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0269
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0352
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0007t0036g0259
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
 102 HG00099.hp1
HG00140.hp2
HG00423.hp2
others(99): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01496.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02258.hp2
HG02293.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03669.hp2
HG03710.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-21885G>A
c.899-21885G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78907712
chr5:78907754 G
G
 A
A
 10 a0001c0003t0001g0344
a0001c0003t0002g0160
a0001c0003t0002g0342
others(7): Show 
a0001c0003t0001g0344
a0001c0003t0002g0160
a0001c0003t0002g0342
a0001c0003t0007g0132
a0001c0003t0015g0346
a0001c0003t0025g0341
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0007c0012t0032g0180
 10 HG01069.hp1
HG01074.hp1
HG01167.hp2
others(7): Show 
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01192.hp1
HG01981.hp1
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.899-21927C>T
c.899-21927C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78907754
chr5:78907755 G
G
 A
A
 15 a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0059g0332
others(12): Show 
a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0012g0177
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0060g0210
a0001c0021t0003g0358
 15 HG00544.hp2
HG01346.hp1
HG01981.hp2
others(12): Show 
HG00544.hp2
HG01346.hp1
HG01981.hp2
HG02074.hp1
HG02738.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp1
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
 intron_variant MODIFIER c.899-21928C>T
c.899-21928C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78907755
chr5:78907843 A
A
 G
G
 245 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(242): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0254
a0001c0003t0007g0132
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0070g0251
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 246 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(243): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.899-22016T>C
c.899-22016T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78907843
chr5:78907891 CAAA
CAAA
 C
C
 7 a0001c0001t0001g0236
a0001c0001t0002g0104
a0001c0001t0008g0223
others(4): Show 
a0001c0001t0001g0236
a0001c0001t0002g0104
a0001c0001t0008g0223
a0001c0001t0008g0297
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0065g0017
 7 HG00280.hp1
NA18944.hp2
NA18959.hp1
others(4): Show 
HG00280.hp1
NA18944.hp2
NA18959.hp1
NA18983.hp2
NA19010.hp2
NA19066.hp1
NA19066.hp2
 intron_variant MODIFIER c.899-22067_899-2206
others(7): Show 
c.899-22067_899-22065delTTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78907891
chr5:78908057 A
A
 C
C
 1 a0003c0004t0014g0164
a0003c0004t0014g0164
 1 HG01993.hp2
HG01993.hp2
 intron_variant MODIFIER c.899-22230T>G
c.899-22230T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78908057
chr5:78908147 T
T
 A
A
 109 a0001c0001t0004g0278
a0001c0001t0006g0356
a0001c0001t0018g0130
others(106): Show 
a0001c0001t0004g0278
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0352
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
 109 HG00099.hp1
HG00140.hp2
HG00423.hp2
others(106): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01496.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02258.hp2
HG02293.hp2
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03195.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp2
HG03710.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-22320A>T
c.899-22320A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78908147
chr5:78908242 T
T
 C
C
 110 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(107): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0270
a0001c0003t0002g0338
a0001c0003t0008g0116
a0001c0003t0014g0220
a0001c0003t0031g0119
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
a0006c0020t0003g0127
 111 HG00099.hp2
HG00280.hp2
HG00323.hp1
others(108): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01517.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02717.hp2
HG02735.hp2
HG02886.hp2
HG02965.hp2
HG03017.hp2
HG03209.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp2
HG04184.hp1
NA18612.hp2
NA18747.hp1
NA18942.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19002.hp1
NA19003.hp1
NA19011.hp2
NA19043.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19077.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp2
NA20752.hp1
 intron_variant MODIFIER c.899-22415A>G
c.899-22415A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78908242
chr5:78908282 C
C
 T
T
 1 a0001c0001t0006g0219
a0001c0001t0006g0219
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.899-22455G>A
c.899-22455G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78908282
chr5:78908339 A
A
 C
C
 1 a0002c0002t0008g0311
a0002c0002t0008g0311
 1 NA18986.hp2
NA18986.hp2
 intron_variant MODIFIER c.899-22512T>G
c.899-22512T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78908339
chr5:78908376 G
G
 C
C
 15 a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0031g0324
others(12): Show 
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0001g0344
a0001c0003t0002g0160
a0001c0003t0002g0342
a0001c0003t0007g0132
a0001c0003t0015g0346
a0001c0003t0025g0341
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0007c0012t0032g0180
 15 HG00741.hp1
HG01069.hp1
HG01074.hp1
others(12): Show 
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp1
HG01981.hp1
HG02809.hp1
HG03130.hp2
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA19030.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.899-22549C>G
c.899-22549C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78908376
chr5:78908413 G
G
 GA
GA
 245 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(242): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0254
a0001c0003t0007g0132
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0070g0251
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 246 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(243): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.899-22587dupT
c.899-22587dupT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78908413
chr5:78908567 G
G
 T
T
 241 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(238): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0254
a0001c0003t0007g0132
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0070g0251
a0001c0005t0032g0117
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 242 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(239): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.899-22740C>A
c.899-22740C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78908567
chr5:78908571 G
G
 A
A
 16 a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
others(13): Show 
a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0012g0177
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0060g0210
a0001c0021t0003g0358
 16 HG00544.hp2
HG01346.hp1
HG01943.hp2
others(13): Show 
HG00544.hp2
HG01346.hp1
HG01943.hp2
HG01981.hp2
HG02074.hp1
HG02738.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp1
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
 intron_variant MODIFIER c.899-22744C>T
c.899-22744C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78908571
chr5:78908623 G
G
 A
A
 5 a0001c0001t0002g0005
a0001c0001t0002g0261
a0001c0001t0004g0009
others(2): Show 
a0001c0001t0002g0005
a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0006g0219
a0001c0003t0018g0057
 5 HG02717.hp1
HG03098.hp2
HG03209.hp2
others(2): Show 
HG02717.hp1
HG03098.hp2
HG03209.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.899-22796C>T
c.899-22796C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78908623
chr5:78908731 C
C
 CT
CT
 200 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(197): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0181
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0141
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0040g0288
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0013
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0254
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0060g0210
a0001c0003t0070g0251
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
 201 HG00099.hp2
HG00280.hp1
HG00280.hp2
others(198): Show 
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp1
NA18957.hp1
NA18959.hp1
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18972.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp1
NA18992.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp2
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.899-22905dupA
c.899-22905dupA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78908731
chr5:78908731 C
C
 CTT
CTT
 42 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(39): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0317
a0001c0001t0003g0032
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0235
a0001c0001t0007g0250
a0001c0001t0008g0040
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0025g0316
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0001g0344
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0007g0132
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0025g0341
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0006c0020t0003g0127
a0007c0012t0032g0180
 42 HG00558.hp1
HG00741.hp1
HG01069.hp1
others(39): Show 
HG00558.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp1
HG01261.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02056.hp2
HG02135.hp1
HG02155.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03654.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18942.hp1
NA18948.hp2
NA18950.hp1
NA18953.hp1
NA18959.hp2
NA18960.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18979.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18995.hp1
NA19011.hp2
NA19030.hp1
NA19077.hp2
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.899-22906_899-2290
others(6): Show 
c.899-22906_899-22905dupAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78908731
chr5:78908748 G
G
 C
C
 4 a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0007t0004g0100
others(1): Show 
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0007t0004g0100
a0001c0007t0068g0111
 4 HG02976.hp2
HG03041.hp2
HG03516.hp2
others(1): Show 
HG02976.hp2
HG03041.hp2
HG03516.hp2
HG03540.hp2
 intron_variant MODIFIER c.899-22921C>G
c.899-22921C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78908748
chr5:78908883 T
T
 C
C
 5 a0001c0003t0006g0267
a0001c0009t0016g0271
a0001c0009t0016g0272
others(2): Show 
a0001c0003t0006g0267
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
 5 HG01884.hp2
HG01891.hp2
HG02145.hp1
others(2): Show 
HG01884.hp2
HG01891.hp2
HG02145.hp1
HG03130.hp1
NA19240.hp1
 intron_variant MODIFIER c.899-23056A>G
c.899-23056A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78908883
chr5:78908946 C
C
 T
T
 3 a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0001t0044g0091
 3 HG00741.hp1
HG01243.hp1
NA19030.hp1
HG00741.hp1
HG01243.hp1
NA19030.hp1
 intron_variant MODIFIER c.899-23119G>A
c.899-23119G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78908946
chr5:78909176 A
A
 G
G
 3 a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
 3 HG01496.hp1
HG02896.hp1
HG03225.hp1
HG01496.hp1
HG02896.hp1
HG03225.hp1
 intron_variant MODIFIER c.899-23349T>C
c.899-23349T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78909176
chr5:78909216 T
T
 C
C
 2 a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0003t0073g0099
a0001c0005t0036g0275
 2 HG02615.hp2
HG03540.hp1
HG02615.hp2
HG03540.hp1
 intron_variant MODIFIER c.899-23389A>G
c.899-23389A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78909216
chr5:78909252 A
A
 G
G
 250 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(247): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0254
a0001c0003t0007g0132
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0032g0117
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 251 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(248): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.899-23425T>C
c.899-23425T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78909252
chr5:78909636 T
T
 C
C
 3 a0001c0001t0002g0201
a0001c0001t0003g0293
a0001c0001t0011g0242
a0001c0001t0002g0201
a0001c0001t0003g0293
a0001c0001t0011g0242
 3 NA18972.hp2
NA18988.hp2
NA18989.hp1
NA18972.hp2
NA18988.hp2
NA18989.hp1
 intron_variant MODIFIER c.899-23809A>G
c.899-23809A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78909636
chr5:78909681 C
C
 T
T
 2 a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0003t0073g0099
a0001c0005t0036g0275
 2 HG02615.hp2
HG03540.hp1
HG02615.hp2
HG03540.hp1
 intron_variant MODIFIER c.899-23854G>A
c.899-23854G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78909681
chr5:78909765 T
T
 C
C
 1 a0007c0012t0032g0180
a0007c0012t0032g0180
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.899-23938A>G
c.899-23938A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78909765
chr5:78909797 G
G
 A
A
 14 a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0031g0324
others(11): Show 
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0001g0344
a0001c0003t0002g0342
a0001c0003t0007g0132
a0001c0003t0015g0346
a0001c0003t0025g0341
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0007c0012t0032g0180
 14 HG00741.hp1
HG01069.hp1
HG01074.hp1
others(11): Show 
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp1
HG02809.hp1
HG03130.hp2
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA19030.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.899-23970C>T
c.899-23970C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78909797
chr5:78909819 G
G
 C
C
 9 a0001c0003t0002g0078
a0001c0003t0002g0253
a0001c0003t0007g0011
others(6): Show 
a0001c0003t0002g0078
a0001c0003t0002g0253
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0089
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0075g0112
 9 HG02055.hp1
HG02258.hp2
HG02647.hp2
others(6): Show 
HG02055.hp1
HG02258.hp2
HG02647.hp2
HG02723.hp2
HG02896.hp2
HG02897.hp2
HG02976.hp1
NA18906.hp2
NA19240.hp2
 intron_variant MODIFIER c.899-23992C>G
c.899-23992C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78909819
chr5:78909940 G
G
 C
C
 159 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(156): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0001g0335
a0001c0001t0002g0039
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0038
a0001c0001t0005g0195
a0001c0001t0005g0235
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 160 HG00099.hp2
HG00280.hp2
HG00323.hp1
others(157): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp2
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02280.hp1
HG02293.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18942.hp1
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19062.hp2
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19077.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.899-24113C>G
c.899-24113C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78909940
chr5:78909957 G
G
 A
A
 2 a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0173
a0001c0001t0021g0174
 2 NA18943.hp2
NA18978.hp2
NA18943.hp2
NA18978.hp2
 intron_variant MODIFIER c.899-24130C>T
c.899-24130C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78909957
chr5:78909974 A
A
 G
G
 5 a0001c0001t0002g0005
a0001c0001t0002g0261
a0001c0001t0004g0009
others(2): Show 
a0001c0001t0002g0005
a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0006g0219
a0001c0003t0018g0057
 5 HG02717.hp1
HG03098.hp2
HG03209.hp2
others(2): Show 
HG02717.hp1
HG03098.hp2
HG03209.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.899-24147T>C
c.899-24147T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78909974
chr5:78910154 C
C
 T
T
 1 a0002c0002t0066g0355
a0002c0002t0066g0355
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.899-24327G>A
c.899-24327G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78910154
chr5:78910216 C
C
 A
A
 2 a0001c0001t0007g0115
a0001c0001t0031g0324
a0001c0001t0007g0115
a0001c0001t0031g0324
 2 HG02809.hp1
HG03130.hp2
HG02809.hp1
HG03130.hp2
 intron_variant MODIFIER c.899-24389G>T
c.899-24389G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78910216
chr5:78910236 C
C
 T
T
 31 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(28): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0317
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0338
a0001c0003t0014g0220
a0006c0020t0003g0127
 31 HG00558.hp1
HG01261.hp2
HG01943.hp1
others(28): Show 
HG00558.hp1
HG01261.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02056.hp2
HG02135.hp1
HG02155.hp2
HG03491.hp2
HG03492.hp2
HG03654.hp2
HG04115.hp2
NA18942.hp1
NA18948.hp2
NA18950.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18979.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19011.hp2
NA19077.hp2
 intron_variant MODIFIER c.899-24409G>A
c.899-24409G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78910236
chr5:78910242 A
A
 G
G
 259 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(256): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0274
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0032g0117
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 260 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(257): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.899-24415T>C
c.899-24415T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78910242
chr5:78910254 G
G
 T
T
 6 a0001c0003t0002g0270
a0001c0003t0008g0116
a0001c0003t0031g0119
others(3): Show 
a0001c0003t0002g0270
a0001c0003t0008g0116
a0001c0003t0031g0119
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
 6 HG01243.hp2
HG02615.hp1
HG02717.hp2
others(3): Show 
HG01243.hp2
HG02615.hp1
HG02717.hp2
HG02965.hp2
HG03209.hp1
HG03486.hp1
 intron_variant MODIFIER c.899-24427C>A
c.899-24427C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78910254
chr5:78910276 C
C
 G
G
 2 a0001c0003t0002g0253
a0001c0005t0075g0112
a0001c0003t0002g0253
a0001c0005t0075g0112
 2 HG02647.hp2
HG02976.hp1
HG02647.hp2
HG02976.hp1
 intron_variant MODIFIER c.899-24449G>C
c.899-24449G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78910276
chr5:78910345 G
G
 T
T
 1 a0001c0007t0004g0100
a0001c0007t0004g0100
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.899-24518C>A
c.899-24518C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78910345
chr5:78910638 C
C
 T
T
 1 a0001c0001t0002g0261
a0001c0001t0002g0261
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.899-24811G>A
c.899-24811G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78910638
chr5:78910729 T
T
 TA
TA
 4 a0001c0001t0003g0159
a0001c0001t0004g0058
a0001c0007t0077g0070
others(1): Show 
a0001c0001t0003g0159
a0001c0001t0004g0058
a0001c0007t0077g0070
a0001c0017t0002g0088
 4 HG01167.hp1
HG02886.hp1
HG03098.hp1
others(1): Show 
HG01167.hp1
HG02886.hp1
HG03098.hp1
NA19030.hp2
 intron_variant MODIFIER c.899-24903dupT
c.899-24903dupT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78910729
chr5:78910796 C
C
 A
A
 3 a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0001t0044g0091
 3 HG00741.hp1
HG01243.hp1
NA19030.hp1
HG00741.hp1
HG01243.hp1
NA19030.hp1
 intron_variant MODIFIER c.899-24969G>T
c.899-24969G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78910796
chr5:78910908 G
G
 A
A
 3 a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
 3 HG01496.hp1
HG02896.hp1
HG03225.hp1
HG01496.hp1
HG02896.hp1
HG03225.hp1
 intron_variant MODIFIER c.899-25081C>T
c.899-25081C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78910908
chr5:78910960 G
G
 A
A
 66 a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0006g0267
others(63): Show 
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0006g0267
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
 66 HG00099.hp1
HG00140.hp2
HG00423.hp2
others(63): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02293.hp2
HG02698.hp1
HG03041.hp1
HG03130.hp1
HG03669.hp2
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-25133C>T
c.899-25133C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78910960
chr5:78911048 G
G
 C
C
 3 a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
 3 HG02055.hp1
NA18906.hp2
NA19240.hp2
HG02055.hp1
NA18906.hp2
NA19240.hp2
 intron_variant MODIFIER c.899-25221C>G
c.899-25221C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78911048
chr5:78911146 T
T
 C
C
 259 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(256): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0274
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0032g0117
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 260 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(257): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.899-25319A>G
c.899-25319A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78911146
chr5:78911276 C
C
 T
T
 1 a0001c0001t0002g0092
a0001c0001t0002g0092
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.899-25449G>A
c.899-25449G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78911276
chr5:78911343 G
G
 A
A
 1 a0001c0007t0068g0111
a0001c0007t0068g0111
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.899-25516C>T
c.899-25516C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78911343
chr5:78911403 G
G
 A
A
 159 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(156): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0001g0335
a0001c0001t0002g0039
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0038
a0001c0001t0005g0195
a0001c0001t0005g0235
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 160 HG00099.hp2
HG00280.hp2
HG00323.hp1
others(157): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp2
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02280.hp1
HG02293.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18942.hp1
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19062.hp2
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19077.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.899-25576C>T
c.899-25576C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78911403
chr5:78911443 G
G
 A
A
 163 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(160): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0001g0335
a0001c0001t0002g0039
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0038
a0001c0001t0005g0195
a0001c0001t0005g0235
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 164 HG00099.hp2
HG00280.hp2
HG00323.hp1
others(161): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp2
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02280.hp1
HG02293.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18942.hp1
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19062.hp2
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19077.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.899-25616C>T
c.899-25616C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78911443
chr5:78911446 C
C
 A
A
 88 a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0003g0019
others(85): Show 
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0005g0038
a0001c0001t0008g0131
a0001c0001t0011g0046
a0001c0001t0021g0347
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0350
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
 89 HG00099.hp2
HG00280.hp2
HG00323.hp1
others(86): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp2
HG01070.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp2
HG02735.hp2
HG02886.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03017.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04184.hp1
NA18612.hp2
NA18747.hp1
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18960.hp1
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18972.hp1
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19043.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp2
NA20752.hp1
 intron_variant MODIFIER c.899-25619G>T
c.899-25619G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78911446
chr5:78911506 G
G
 A
A
 1 a0001c0001t0011g0046
a0001c0001t0011g0046
 1 NA18947.hp2
NA18947.hp2
 intron_variant MODIFIER c.899-25679C>T
c.899-25679C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78911506
chr5:78911572 T
T
 TA
TA
 37 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0087
others(34): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0236
a0001c0001t0001g0305
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0003g0093
a0001c0001t0003g0159
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0058
a0001c0001t0004g0328
a0001c0001t0004g0337
a0001c0001t0005g0041
a0001c0001t0005g0171
a0001c0001t0008g0030
a0001c0001t0008g0286
a0001c0001t0011g0026
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0028
a0001c0001t0065g0017
a0001c0003t0002g0082
a0001c0003t0006g0254
a0001c0003t0012g0166
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0075g0112
a0002c0002t0003g0336
a0004c0006t0004g0188
a0004c0006t0004g0215
 37 HG00438.hp2
HG00621.hp2
HG01074.hp2
others(34): Show 
HG00438.hp2
HG00621.hp2
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01358.hp1
HG01496.hp2
HG01952.hp1
HG02055.hp1
HG02056.hp1
HG02080.hp2
HG02109.hp1
HG02135.hp2
HG02622.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03139.hp2
HG03486.hp2
HG03834.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp2
NA18906.hp1
NA18944.hp2
NA18946.hp2
NA18953.hp2
NA18993.hp1
NA19001.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp2
NA19062.hp1
NA19066.hp1
NA19066.hp2
NA21309.hp2
 intron_variant MODIFIER c.899-25746dupT
c.899-25746dupT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78911572
chr5:78911572 T
T
 TAA
TAA
 19 a0001c0001t0001g0035
a0001c0001t0001g0084
a0001c0001t0001g0289
others(16): Show 
a0001c0001t0001g0035
a0001c0001t0001g0084
a0001c0001t0001g0289
a0001c0001t0005g0172
a0001c0001t0008g0036
a0001c0001t0008g0279
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0034g0072
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0003t0002g0013
a0001c0003t0002g0253
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0005t0035g0165
a0001c0007t0036g0259
a0001c0007t0077g0070
a0002c0002t0001g0345
 19 HG00140.hp1
HG00408.hp2
HG01167.hp1
others(16): Show 
HG00140.hp1
HG00408.hp2
HG01167.hp1
HG01361.hp2
HG02027.hp2
HG02280.hp2
HG02559.hp2
HG02647.hp2
HG02683.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG03195.hp1
HG03195.hp2
HG03654.hp1
NA18957.hp1
NA18962.hp2
NA18978.hp2
 intron_variant MODIFIER c.899-25747_899-2574
others(6): Show 
c.899-25747_899-25746dupTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78911572
chr5:78911572 T
T
 TAAA
TAAA
 9 a0001c0001t0002g0277
a0001c0001t0003g0167
a0001c0001t0003g0214
others(6): Show 
a0001c0001t0002g0277
a0001c0001t0003g0167
a0001c0001t0003g0214
a0001c0001t0004g0278
a0001c0001t0007g0181
a0001c0001t0037g0059
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0089
 9 HG00609.hp1
HG01175.hp1
HG02258.hp2
others(6): Show 
HG00609.hp1
HG01175.hp1
HG02258.hp2
HG02622.hp2
HG02698.hp2
HG02896.hp2
HG02897.hp2
HG03453.hp2
HG03942.hp1
 intron_variant MODIFIER c.899-25748_899-2574
others(7): Show 
c.899-25748_899-25746dupTTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78911572
chr5:78911572 T
T
 TAAAAAAA
others(4): Show 
TAAAAAAAAAAA
 1 a0001c0001t0003g0064
a0001c0001t0003g0064
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.899-25756_899-2574
others(15): Show 
c.899-25756_899-25746dupTTTTTTTTTTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78911572
chr5:78911572 TA
TA
 T
T
 7 a0001c0001t0003g0140
a0001c0001t0004g0083
a0001c0001t0010g0141
others(4): Show 
a0001c0001t0003g0140
a0001c0001t0004g0083
a0001c0001t0010g0141
a0001c0003t0002g0101
a0001c0003t0009g0281
a0001c0003t0018g0057
a0001c0003t0061g0252
 7 HG02040.hp2
HG02129.hp2
HG02523.hp2
others(4): Show 
HG02040.hp2
HG02129.hp2
HG02523.hp2
HG02895.hp1
HG03516.hp1
NA19088.hp1
NA20129.hp2
 intron_variant MODIFIER c.899-25746delT
c.899-25746delT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78911572
chr5:78911572 TAAAA
TAAAA
 T
T
 6 a0001c0001t0003g0190
a0001c0001t0059g0332
a0001c0003t0002g0276
others(3): Show 
a0001c0001t0003g0190
a0001c0001t0059g0332
a0001c0003t0002g0276
a0001c0003t0035g0357
a0001c0005t0032g0117
a0001c0022t0006g0359
 6 HG02074.hp1
HG02559.hp1
HG02723.hp1
others(3): Show 
HG02074.hp1
HG02559.hp1
HG02723.hp1
HG02965.hp1
NA19043.hp2
NA19065.hp2
 intron_variant MODIFIER c.899-25749_899-2574
others(8): Show 
c.899-25749_899-25746delTTTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78911572
chr5:78911572 TAAAAA
TAAAAA
 T
T
 8 a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0003t0003g0334
others(5): Show 
a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0003t0003g0334
a0001c0003t0006g0103
a0001c0003t0022g0229
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0015t0027g0102
 8 HG01346.hp1
HG01981.hp2
HG02055.hp2
others(5): Show 
HG01346.hp1
HG01981.hp2
HG02055.hp2
HG02451.hp1
HG02922.hp2
HG03540.hp2
NA19063.hp1
NA19085.hp1
 intron_variant MODIFIER c.899-25750_899-2574
others(9): Show 
c.899-25750_899-25746delTTTTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78911572
chr5:78911572 TAAAAAA
TAAAAAA
 T
T
 9 a0001c0001t0007g0333
a0001c0003t0001g0047
a0001c0003t0001g0048
others(6): Show 
a0001c0001t0007g0333
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0003g0050
a0001c0003t0012g0177
a0001c0003t0034g0071
a0001c0003t0060g0210
a0001c0021t0003g0358
 9 HG00544.hp2
HG01943.hp2
HG02738.hp1
others(6): Show 
HG00544.hp2
HG01943.hp2
HG02738.hp1
HG03139.hp1
HG03225.hp2
NA18947.hp1
NA18962.hp1
NA19000.hp2
NA19010.hp1
 intron_variant MODIFIER c.899-25751_899-2574
others(10): Show 
c.899-25751_899-25746delTTTTTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78911572
chr5:78911572 TAAAAAAA
TAAAAAAA
 T
T
 9 a0001c0001t0003g0019
a0001c0001t0006g0356
a0001c0003t0001g0326
others(6): Show 
a0001c0001t0003g0019
a0001c0001t0006g0356
a0001c0003t0001g0326
a0001c0003t0002g0270
a0001c0003t0005g0060
a0002c0002t0008g0311
a0002c0002t0018g0308
a0003c0004t0012g0123
a0003c0004t0023g0151
 9 HG00738.hp2
HG01243.hp2
HG01433.hp2
others(6): Show 
HG00738.hp2
HG01243.hp2
HG01433.hp2
HG03490.hp1
HG03516.hp2
NA18961.hp2
NA18986.hp2
NA18988.hp1
NA19088.hp2
 intron_variant MODIFIER c.899-25752_899-2574
others(11): Show 
c.899-25752_899-25746delTTTTTTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78911572
chr5:78911572 TAAAAAAA
others(1): Show 
TAAAAAAAA
 T
T
 35 a0001c0001t0001g0315
a0001c0001t0003g0021
a0001c0001t0005g0038
others(32): Show 
a0001c0001t0001g0315
a0001c0001t0003g0021
a0001c0001t0005g0038
a0001c0001t0011g0046
a0001c0001t0018g0130
a0001c0001t0021g0347
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0012g0350
a0001c0003t0027g0114
a0001c0007t0068g0111
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0003g0129
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0025g0213
a0002c0002t0050g0008
a0003c0004t0001g0154
a0003c0004t0002g0243
a0003c0004t0004g0122
a0003c0004t0004g0150
a0003c0004t0011g0007
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0014t0015g0202
 35 HG00408.hp1
HG00673.hp2
HG00733.hp1
others(32): Show 
HG00408.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01168.hp2
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02074.hp2
HG02523.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02647.hp1
HG02735.hp2
HG02976.hp2
HG03041.hp2
HG03710.hp2
HG03942.hp2
NA18612.hp2
NA18947.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18954.hp1
NA18960.hp1
NA18963.hp1
NA18968.hp1
NA18972.hp1
NA18978.hp1
NA18985.hp1
NA18994.hp2
NA19003.hp1
NA19068.hp1
 intron_variant MODIFIER c.899-25753_899-2574
others(12): Show 
c.899-25753_899-25746delTTTTTTTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78911572
chr5:78911572 TAAAAAAA
others(2): Show 
TAAAAAAAAA
 T
T
 47 a0001c0001t0002g0039
a0001c0001t0008g0131
a0001c0003t0006g0274
others(44): Show 
a0001c0001t0002g0039
a0001c0001t0008g0131
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0001g0231
a0002c0002t0002g0179
a0002c0002t0002g0314
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0149
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0062g0133
a0004c0006t0016g0163
 48 HG00099.hp2
HG00280.hp2
HG00323.hp1
others(45): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG02040.hp1
HG02080.hp1
HG02280.hp1
HG02293.hp1
HG02615.hp1
HG02683.hp1
HG02717.hp2
HG02886.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03017.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03834.hp1
HG03927.hp2
HG04184.hp1
NA18747.hp1
NA18946.hp1
NA18952.hp1
NA18979.hp1
NA18992.hp1
NA19002.hp1
NA19043.hp1
NA19062.hp2
NA19065.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA20752.hp1
 intron_variant MODIFIER c.899-25754_899-2574
others(13): Show 
c.899-25754_899-25746delTTTTTTTTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78911572
chr5:78911572 TAAAAAAA
others(3): Show 
TAAAAAAAAAA
 T
T
 2 a0003c0004t0054g0142
a0003c0004t0072g0323
a0003c0004t0054g0142
a0003c0004t0072g0323
 2 HG00642.hp1
HG02145.hp2
HG00642.hp1
HG02145.hp2
 intron_variant MODIFIER c.899-25755_899-2574
others(14): Show 
c.899-25755_899-25746delTTTTTTTTTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78911572
chr5:78911572 TAAAAAAA
others(6): Show 
TAAAAAAAAAAAAA
 T
T
 5 a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0031g0324
others(2): Show 
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
 5 HG00741.hp1
HG01243.hp1
HG02809.hp1
others(2): Show 
HG00741.hp1
HG01243.hp1
HG02809.hp1
HG03130.hp2
NA19030.hp1
 intron_variant MODIFIER c.899-25758_899-2574
others(17): Show 
c.899-25758_899-25746delTTTTTTTTTTTTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78911572
chr5:78911572 TAAAAAAA
others(7): Show 
TAAAAAAAAAAAAAA
 T
T
 9 a0001c0001t0001g0144
a0001c0003t0001g0344
a0001c0003t0002g0342
others(6): Show 
a0001c0001t0001g0144
a0001c0003t0001g0344
a0001c0003t0002g0342
a0001c0003t0007g0132
a0001c0003t0015g0346
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0007c0012t0032g0180
 9 HG01069.hp1
HG01074.hp1
HG01192.hp1
others(6): Show 
HG01069.hp1
HG01074.hp1
HG01192.hp1
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA18942.hp2
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.899-25759_899-2574
others(18): Show 
c.899-25759_899-25746delTTTTTTTTTTTTTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78911572
chr5:78911572 TAAAAAAA
others(8): Show 
TAAAAAAAAAAAAAAA
 T
T
 1 a0001c0003t0025g0341
a0001c0003t0025g0341
 1 HG01167.hp2
HG01167.hp2
 intron_variant MODIFIER c.899-25760_899-2574
others(19): Show 
c.899-25760_899-25746delTTTTTTTTTTTTTTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78911572
chr5:78911572 TAAAAAAA
others(9): Show 
TAAAAAAAAAAAAAAAA
 T
T
 6 a0001c0001t0003g0063
a0001c0001t0005g0075
a0001c0001t0005g0076
others(3): Show 
a0001c0001t0003g0063
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0008g0065
a0001c0001t0008g0113
 6 HG00738.hp1
HG01069.hp2
HG01071.hp2
others(3): Show 
HG00738.hp1
HG01069.hp2
HG01071.hp2
HG01433.hp1
HG01993.hp1
HG04184.hp2
 intron_variant MODIFIER c.899-25761_899-2574
others(20): Show 
c.899-25761_899-25746delTTTTTTTTTTTTTTTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78911572
chr5:78911572 TAAAAAAA
others(10): Show 
TAAAAAAAAAAAAAAAAA
 T
T
 4 a0001c0001t0002g0317
a0001c0001t0003g0256
a0001c0001t0003g0257
others(1): Show 
a0001c0001t0002g0317
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
 4 NA18968.hp2
NA18972.hp2
NA18979.hp2
others(1): Show 
NA18968.hp2
NA18972.hp2
NA18979.hp2
NA18994.hp1
 intron_variant MODIFIER c.899-25762_899-2574
others(21): Show 
c.899-25762_899-25746delTTTTTTTTTTTTTTTTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78911572
chr5:78911572 TAAAAAAA
others(11): Show 
TAAAAAAAAAAAAAAAAAA
 T
T
 32 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(29): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0078
a0001c0003t0002g0338
a0001c0003t0014g0220
a0001c0003t0073g0099
a0001c0005t0036g0275
a0006c0020t0003g0127
 32 HG00558.hp1
HG01261.hp2
HG01943.hp1
others(29): Show 
HG00558.hp1
HG01261.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02056.hp2
HG02135.hp1
HG02155.hp2
HG02615.hp2
HG02723.hp2
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03654.hp2
HG04115.hp2
NA18942.hp1
NA18948.hp2
NA18950.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18969.hp2
NA18970.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19011.hp2
NA19077.hp2
 intron_variant MODIFIER c.899-25763_899-2574
others(22): Show 
c.899-25763_899-25746delTTTTTTTTTTTTTTTTTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78911572
chr5:78911572 TAAAAAAA
others(12): Show 
TAAAAAAAAAAAAAAAAAAA
 T
T
 2 a0002c0002t0066g0355
a0002c0002t0071g0280
a0002c0002t0066g0355
a0002c0002t0071g0280
 2 HG00741.hp2
HG02109.hp2
HG00741.hp2
HG02109.hp2
 intron_variant MODIFIER c.899-25764_899-2574
others(23): Show 
c.899-25764_899-25746delTTTTTTTTTTTTTTTTTTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78911572
chr5:78911572 TAAAAAAA
others(13): Show 
TAAAAAAAAAAAAAAAAAAAA
 T
T
 62 a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0006g0267
others(59): Show 
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0006g0267
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0067g0203
 62 HG00099.hp1
HG00140.hp2
HG00423.hp2
others(59): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02293.hp2
HG02698.hp1
HG03041.hp1
HG03130.hp1
HG03669.hp2
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-25765_899-2574
others(24): Show 
c.899-25765_899-25746delTTTTTTTTTTTTTTTTTTTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78911572
chr5:78911572 TAAAAAAA
others(14): Show 
TAAAAAAAAAAAAAAAAAAAAA
 T
T
 2 a0002c0002t0003g0197
a0002c0002t0009g0193
a0002c0002t0003g0197
a0002c0002t0009g0193
 2 HG01070.hp2
HG02004.hp1
HG01070.hp2
HG02004.hp1
 intron_variant MODIFIER c.899-25766_899-2574
others(25): Show 
c.899-25766_899-25746delTTTTTTTTTTTTTTTTTTTTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78911572
chr5:78911572 TAAAAAAA
others(16): Show 
TAAAAAAAAAAAAAAAAAAAAAAA
 T
T
 3 a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
 3 HG01496.hp1
HG02896.hp1
HG03225.hp1
HG01496.hp1
HG02896.hp1
HG03225.hp1
 intron_variant MODIFIER c.899-25768_899-2574
others(27): Show 
c.899-25768_899-25746delTTTTTTTTTTTTTTTTTTTTTTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78911572
chr5:78911572 TAAAAAAA
others(18): Show 
TAAAAAAAAAAAAAAAAAAAAAAAAA
 T
T
 1 a0005c0016t0002g0237
a0005c0016t0002g0237
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.899-25770_899-2574
others(29): Show 
c.899-25770_899-25746delTTTTTTTTTTTTTTTTTTTTTTTTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78911572
chr5:78911636 T
T
 C
C
 1 a0002c0002t0025g0213
a0002c0002t0025g0213
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.899-25809A>G
c.899-25809A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78911636
chr5:78911719 G
G
 A
A
 88 a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0003g0019
others(85): Show 
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0005g0038
a0001c0001t0008g0131
a0001c0001t0011g0046
a0001c0001t0021g0347
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0350
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
 89 HG00099.hp2
HG00280.hp2
HG00323.hp1
others(86): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp2
HG01070.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp2
HG02735.hp2
HG02886.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03017.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04184.hp1
NA18612.hp2
NA18747.hp1
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18960.hp1
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18972.hp1
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19043.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp2
NA20752.hp1
 intron_variant MODIFIER c.899-25892C>T
c.899-25892C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78911719
chr5:78911778 C
C
 G
G
 4 a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0007t0004g0100
others(1): Show 
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0007t0004g0100
a0001c0007t0068g0111
 4 HG02976.hp2
HG03041.hp2
HG03516.hp2
others(1): Show 
HG02976.hp2
HG03041.hp2
HG03516.hp2
HG03540.hp2
 intron_variant MODIFIER c.899-25951G>C
c.899-25951G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78911778
chr5:78911834 A
A
 G
G
 3 a0001c0003t0006g0103
a0001c0003t0034g0071
a0001c0015t0027g0102
a0001c0003t0006g0103
a0001c0003t0034g0071
a0001c0015t0027g0102
 3 HG02055.hp2
HG02922.hp2
HG03139.hp1
HG02055.hp2
HG02922.hp2
HG03139.hp1
 intron_variant MODIFIER c.899-26007T>C
c.899-26007T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78911834
chr5:78911970 T
T
 C
C
 1 a0001c0001t0013g0329
a0001c0001t0013g0329
 1 NA18953.hp2
NA18953.hp2
 intron_variant MODIFIER c.899-26143A>G
c.899-26143A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78911970
chr5:78912008 A
A
 G
G
 1 a0001c0001t0003g0339
a0001c0001t0003g0339
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.899-26181T>C
c.899-26181T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78912008
chr5:78912046 G
G
 A
A
 1 a0002c0002t0005g0318
a0002c0002t0005g0318
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.899-26219C>T
c.899-26219C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78912046
chr5:78912193 C
C
 T
T
 4 a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0007t0004g0100
others(1): Show 
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0007t0004g0100
a0001c0007t0068g0111
 4 HG02976.hp2
HG03041.hp2
HG03516.hp2
others(1): Show 
HG02976.hp2
HG03041.hp2
HG03516.hp2
HG03540.hp2
 intron_variant MODIFIER c.899-26366G>A
c.899-26366G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78912193
chr5:78912219 T
T
 C
C
 1 a0001c0003t0002g0276
a0001c0003t0002g0276
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.899-26392A>G
c.899-26392A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78912219
chr5:78912224 A
A
 G
G
 10 a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
others(7): Show 
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0022t0006g0359
a0005c0016t0002g0237
 10 HG02055.hp2
HG02258.hp1
HG02451.hp1
others(7): Show 
HG02055.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02723.hp1
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG03139.hp1
NA19043.hp2
 intron_variant MODIFIER c.899-26397T>C
c.899-26397T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78912224
chr5:78912425 G
G
 A
A
 9 a0001c0003t0001g0344
a0001c0003t0002g0342
a0001c0003t0007g0132
others(6): Show 
a0001c0003t0001g0344
a0001c0003t0002g0342
a0001c0003t0007g0132
a0001c0003t0015g0346
a0001c0003t0025g0341
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0007c0012t0032g0180
 9 HG01069.hp1
HG01074.hp1
HG01167.hp2
others(6): Show 
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01192.hp1
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.899-26598C>T
c.899-26598C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78912425
chr5:78912871 A
A
 C
C
 14 a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0031g0324
others(11): Show 
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0001g0344
a0001c0003t0002g0342
a0001c0003t0007g0132
a0001c0003t0015g0346
a0001c0003t0025g0341
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0007c0012t0032g0180
 14 HG00741.hp1
HG01069.hp1
HG01074.hp1
others(11): Show 
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp1
HG02809.hp1
HG03130.hp2
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA19030.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.899-27044T>G
c.899-27044T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78912871
chr5:78912972 G
G
 C
C
 1 a0003c0004t0004g0150
a0003c0004t0004g0150
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.899-27145C>G
c.899-27145C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78912972
chr5:78912974 A
A
 C
C
 90 a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0003g0019
others(87): Show 
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0005g0038
a0001c0001t0008g0131
a0001c0001t0011g0046
a0001c0001t0021g0347
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0350
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
 91 HG00099.hp2
HG00280.hp2
HG00323.hp1
others(88): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp2
HG01070.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp2
HG02735.hp2
HG02886.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03017.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04184.hp1
NA18612.hp2
NA18747.hp1
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18960.hp1
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18972.hp1
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19043.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp2
NA20752.hp1
 intron_variant MODIFIER c.899-27147T>G
c.899-27147T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78912974
chr5:78913121 C
C
 CT
CT
 178 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(175): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0305
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0307
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0337
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0208
a0001c0001t0007g0181
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0223
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0141
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0024g0182
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0269
a0001c0003t0003g0050
a0001c0003t0006g0103
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0028g0051
a0001c0003t0034g0071
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0007t0036g0259
a0001c0007t0077g0070
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0345
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
 178 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(175): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01884.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02155.hp1
HG02258.hp2
HG02293.hp2
HG02523.hp2
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03710.hp1
HG03834.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18948.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18992.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19077.hp1
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-27295dupA
c.899-27295dupA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78913121
chr5:78913121 C
C
 CTT
CTT
 8 a0001c0001t0001g0084
a0001c0001t0001g0289
a0001c0001t0003g0327
others(5): Show 
a0001c0001t0001g0084
a0001c0001t0001g0289
a0001c0001t0003g0327
a0001c0001t0004g0330
a0001c0001t0011g0026
a0001c0003t0002g0320
a0002c0002t0002g0055
a0002c0002t0019g0303
 8 HG00621.hp2
HG02027.hp2
HG02071.hp1
others(5): Show 
HG00621.hp2
HG02027.hp2
HG02071.hp1
HG02071.hp2
HG02738.hp2
NA18949.hp2
NA18993.hp1
NA18993.hp2
 intron_variant MODIFIER c.899-27296_899-2729
others(6): Show 
c.899-27296_899-27295dupAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78913121
chr5:78913121 CT
CT
 C
C
 120 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(117): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0038
a0001c0001t0005g0235
a0001c0001t0006g0356
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0270
a0001c0003t0002g0338
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
a0006c0020t0003g0127
 121 HG00099.hp2
HG00280.hp2
HG00323.hp1
others(118): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp2
HG01070.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp2
HG02735.hp2
HG02886.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
NA18612.hp2
NA18747.hp1
NA18942.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA18995.hp1
NA19002.hp1
NA19003.hp1
NA19011.hp2
NA19043.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19077.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp2
NA20752.hp1
 intron_variant MODIFIER c.899-27295delA
c.899-27295delA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78913121
chr5:78913158 G
G
 A
A
 10 a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
others(7): Show 
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0022t0006g0359
a0005c0016t0002g0237
 10 HG02055.hp2
HG02258.hp1
HG02451.hp1
others(7): Show 
HG02055.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02723.hp1
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG03139.hp1
NA19043.hp2
 intron_variant MODIFIER c.899-27331C>T
c.899-27331C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78913158
chr5:78913188 G
G
 T
T
 1 a0001c0003t0018g0057
a0001c0003t0018g0057
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.899-27361C>A
c.899-27361C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78913188
chr5:78913218 A
A
 G
G
 5 a0001c0001t0002g0005
a0001c0001t0002g0261
a0001c0001t0004g0009
others(2): Show 
a0001c0001t0002g0005
a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0006g0219
a0001c0003t0018g0057
 5 HG02717.hp1
HG03098.hp2
HG03209.hp2
others(2): Show 
HG02717.hp1
HG03098.hp2
HG03209.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.899-27391T>C
c.899-27391T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78913218
chr5:78913285 C
C
 T
T
 2 a0001c0003t0015g0346
a0001c0003t0046g0343
a0001c0003t0015g0346
a0001c0003t0046g0343
 2 HG01069.hp1
HG03491.hp1
HG01069.hp1
HG03491.hp1
 intron_variant MODIFIER c.899-27458G>A
c.899-27458G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78913285
chr5:78913391 T
T
 A
A
 2 a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0003t0073g0099
a0001c0005t0036g0275
 2 HG02615.hp2
HG03540.hp1
HG02615.hp2
HG03540.hp1
 intron_variant MODIFIER c.899-27564A>T
c.899-27564A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78913391
chr5:78913417 G
G
 A
A
 16 a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
others(13): Show 
a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0012g0177
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0060g0210
a0001c0021t0003g0358
 16 HG00544.hp2
HG01346.hp1
HG01943.hp2
others(13): Show 
HG00544.hp2
HG01346.hp1
HG01943.hp2
HG01981.hp2
HG02074.hp1
HG02738.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp1
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
 intron_variant MODIFIER c.899-27590C>T
c.899-27590C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78913417
chr5:78913682 C
C
 T
T
 16 a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
others(13): Show 
a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0012g0177
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0060g0210
a0001c0021t0003g0358
 16 HG00544.hp2
HG01346.hp1
HG01943.hp2
others(13): Show 
HG00544.hp2
HG01346.hp1
HG01943.hp2
HG01981.hp2
HG02074.hp1
HG02738.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp1
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
 intron_variant MODIFIER c.899-27855G>A
c.899-27855G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78913682
chr5:78913772 GA
GA
 G
G
 4 a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0007t0004g0100
others(1): Show 
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0007t0004g0100
a0001c0007t0068g0111
 4 HG02976.hp2
HG03041.hp2
HG03516.hp2
others(1): Show 
HG02976.hp2
HG03041.hp2
HG03516.hp2
HG03540.hp2
 intron_variant MODIFIER c.899-27946delT
c.899-27946delT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78913772
chr5:78913792 G
G
 T
T
 1 a0001c0001t0011g0046
a0001c0001t0011g0046
 1 NA18947.hp2
NA18947.hp2
 intron_variant MODIFIER c.899-27965C>A
c.899-27965C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78913792
chr5:78913909 A
A
 T
T
 30 a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0287
others(27): Show 
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0030g0037
a0002c0002t0042g0224
a0002c0002t0055g0094
 30 HG00423.hp2
HG00438.hp1
HG00609.hp2
others(27): Show 
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00673.hp1
HG01257.hp1
HG02129.hp1
HG02132.hp2
HG03669.hp2
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18951.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19084.hp2
 intron_variant MODIFIER c.899-28082T>A
c.899-28082T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78913909
chr5:78913930 C
C
 T
T
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01106.hp2
HG01106.hp2
 intron_variant MODIFIER c.899-28103G>A
c.899-28103G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78913930
chr5:78913963 A
A
 AT
AT
 53 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(50): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0317
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0005g0235
a0001c0001t0009g0226
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0338
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0005t0074g0073
a0001c0007t0036g0259
a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
a0006c0020t0003g0127
 53 HG00558.hp1
HG01109.hp2
HG01261.hp2
others(50): Show 
HG00558.hp1
HG01109.hp2
HG01261.hp2
HG01496.hp1
HG01884.hp1
HG01975.hp1
HG01978.hp1
HG02055.hp1
HG02056.hp2
HG02109.hp1
HG02135.hp1
HG02155.hp2
HG02258.hp2
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG03195.hp1
HG03225.hp1
HG03471.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03579.hp1
HG03654.hp2
HG04115.hp2
NA18906.hp1
NA18906.hp2
NA18950.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18969.hp2
NA18970.hp2
NA18975.hp2
NA18979.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19011.hp2
NA19077.hp2
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.899-28137dupA
c.899-28137dupA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78913963
chr5:78913963 A
A
 ATT
ATT
 16 a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0007g0115
others(13): Show 
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0001g0344
a0001c0003t0002g0342
a0001c0003t0007g0132
a0001c0003t0015g0346
a0001c0003t0025g0341
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0007c0012t0032g0180
 16 HG00741.hp1
HG01069.hp1
HG01074.hp1
others(13): Show 
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp1
HG02809.hp1
HG03130.hp2
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA18948.hp2
NA18972.hp2
NA19030.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.899-28138_899-2813
others(6): Show 
c.899-28138_899-28137dupAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78913963
chr5:78914157 G
G
 A
A
 3 a0003c0004t0003g0292
a0003c0004t0054g0142
a0003c0004t0072g0323
a0003c0004t0003g0292
a0003c0004t0054g0142
a0003c0004t0072g0323
 3 HG00642.hp1
HG02145.hp2
HG02280.hp1
HG00642.hp1
HG02145.hp2
HG02280.hp1
 intron_variant MODIFIER c.899-28330C>T
c.899-28330C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78914157
chr5:78914195 C
C
 T
T
 2 a0002c0002t0023g0162
a0002c0002t0057g0284
a0002c0002t0023g0162
a0002c0002t0057g0284
 2 HG01175.hp2
NA20805.hp1
HG01175.hp2
NA20805.hp1
 intron_variant MODIFIER c.899-28368G>A
c.899-28368G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78914195
chr5:78914205 T
T
 A
A
 1 a0002c0002t0005g0340
a0002c0002t0005g0340
 1 NA18969.hp1
NA18969.hp1
 intron_variant MODIFIER c.899-28378A>T
c.899-28378A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78914205
chr5:78914217 G
G
 T
T
 1 a0001c0001t0003g0064
a0001c0001t0003g0064
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.899-28390C>A
c.899-28390C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78914217
chr5:78914262 G
G
 A
A
 10 a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
others(7): Show 
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0022t0006g0359
a0005c0016t0002g0237
 10 HG02055.hp2
HG02258.hp1
HG02451.hp1
others(7): Show 
HG02055.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02723.hp1
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG03139.hp1
NA19043.hp2
 intron_variant MODIFIER c.899-28435C>T
c.899-28435C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78914262
chr5:78914349 G
G
 A
A
 165 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(162): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0001g0335
a0001c0001t0002g0039
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0038
a0001c0001t0005g0195
a0001c0001t0005g0235
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 166 HG00099.hp2
HG00280.hp2
HG00323.hp1
others(163): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp2
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02280.hp1
HG02293.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18942.hp1
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19062.hp2
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19077.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.899-28522C>T
c.899-28522C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78914349
chr5:78914598 C
C
 T
T
 6 a0001c0001t0002g0005
a0001c0001t0002g0261
a0001c0001t0004g0009
others(3): Show 
a0001c0001t0002g0005
a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0006g0219
a0001c0003t0018g0057
a0002c0002t0011g0230
 6 HG02132.hp2
HG02717.hp1
HG03098.hp2
others(3): Show 
HG02132.hp2
HG02717.hp1
HG03098.hp2
HG03209.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.899-28771G>A
c.899-28771G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78914598
chr5:78914792 G
G
 A
A
 24 a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
others(21): Show 
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0007t0036g0259
 24 HG01109.hp2
HG01884.hp1
HG02055.hp1
others(21): Show 
HG01109.hp2
HG01884.hp1
HG02055.hp1
HG02109.hp1
HG02258.hp2
HG02559.hp2
HG02622.hp1
HG02647.hp2
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG03195.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA18906.hp1
NA18906.hp2
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.899-28965C>T
c.899-28965C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78914792
chr5:78914902 T
T
 C
C
 121 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(118): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0038
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0270
a0001c0003t0002g0338
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
a0006c0020t0003g0127
 122 HG00099.hp2
HG00280.hp2
HG00323.hp1
others(119): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp2
HG01070.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp2
HG02735.hp2
HG02886.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03017.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp2
HG04184.hp1
NA18612.hp2
NA18747.hp1
NA18942.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19002.hp1
NA19003.hp1
NA19011.hp2
NA19043.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19077.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp2
NA20752.hp1
 intron_variant MODIFIER c.899-29075A>G
c.899-29075A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78914902
chr5:78915207 G
G
 A
A
 4 a0001c0001t0004g0278
a0001c0003t0006g0103
a0001c0003t0034g0071
others(1): Show 
a0001c0001t0004g0278
a0001c0003t0006g0103
a0001c0003t0034g0071
a0001c0015t0027g0102
 4 HG02055.hp2
HG02622.hp2
HG02922.hp2
others(1): Show 
HG02055.hp2
HG02622.hp2
HG02922.hp2
HG03139.hp1
 intron_variant MODIFIER c.899-29380C>T
c.899-29380C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78915207
chr5:78915282 C
C
 T
T
 162 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(159): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0001g0335
a0001c0001t0002g0039
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0005g0038
a0001c0001t0005g0195
a0001c0001t0005g0235
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 163 HG00099.hp2
HG00280.hp2
HG00323.hp1
others(160): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp2
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02280.hp1
HG02293.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18942.hp1
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19062.hp2
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19077.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.899-29455G>A
c.899-29455G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78915282
chr5:78915603 C
C
 T
T
 2 a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0004g0096
a0002c0002t0004g0097
 2 NA18951.hp2
NA19001.hp1
NA18951.hp2
NA19001.hp1
 intron_variant MODIFIER c.899-29776G>A
c.899-29776G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78915603
chr5:78915618 C
C
 T
T
 1 a0001c0003t0009g0281
a0001c0003t0009g0281
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.899-29791G>A
c.899-29791G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78915618
chr5:78915653 A
A
 G
G
 330 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(327): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0032g0117
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 331 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(328): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-29826T>C
c.899-29826T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78915653
chr5:78915775 G
G
 A
A
 1 a0001c0003t0002g0270
a0001c0003t0002g0270
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.899-29948C>T
c.899-29948C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78915775
chr5:78915787 T
T
 C
C
 1 a0001c0001t0021g0347
a0001c0001t0021g0347
 1 NA18963.hp1
NA18963.hp1
 intron_variant MODIFIER c.899-29960A>G
c.899-29960A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78915787
chr5:78915852 A
A
 G
G
 2 a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0003t0073g0099
a0001c0005t0036g0275
 2 HG02615.hp2
HG03540.hp1
HG02615.hp2
HG03540.hp1
 intron_variant MODIFIER c.899-30025T>C
c.899-30025T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78915852
chr5:78916075 G
G
 T
T
 358 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(355): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 359 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(356): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-30248C>A
c.899-30248C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78916075
chr5:78916100 G
G
 A
A
 2 a0001c0001t0001g0263
a0001c0001t0010g0264
a0001c0001t0001g0263
a0001c0001t0010g0264
 2 HG03491.hp2
HG03492.hp2
HG03491.hp2
HG03492.hp2
 intron_variant MODIFIER c.899-30273C>T
c.899-30273C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78916100
chr5:78916462 C
C
 G
G
 1 a0001c0001t0040g0288
a0001c0001t0040g0288
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.899-30635G>C
c.899-30635G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78916462
chr5:78916607 G
G
 C
C
 9 a0001c0003t0001g0344
a0001c0003t0002g0342
a0001c0003t0007g0132
others(6): Show 
a0001c0003t0001g0344
a0001c0003t0002g0342
a0001c0003t0007g0132
a0001c0003t0015g0346
a0001c0003t0025g0341
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0007c0012t0032g0180
 9 HG01069.hp1
HG01074.hp1
HG01167.hp2
others(6): Show 
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01192.hp1
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.899-30780C>G
c.899-30780C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78916607
chr5:78916614 T
T
 C
C
 9 a0001c0003t0001g0344
a0001c0003t0002g0342
a0001c0003t0007g0132
others(6): Show 
a0001c0003t0001g0344
a0001c0003t0002g0342
a0001c0003t0007g0132
a0001c0003t0015g0346
a0001c0003t0025g0341
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0007c0012t0032g0180
 9 HG01069.hp1
HG01074.hp1
HG01167.hp2
others(6): Show 
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01192.hp1
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.899-30787A>G
c.899-30787A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78916614
chr5:78916658 C
C
 T
T
 66 a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0006g0267
others(63): Show 
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0006g0267
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
 66 HG00099.hp1
HG00140.hp2
HG00423.hp2
others(63): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02293.hp2
HG02698.hp1
HG03041.hp1
HG03130.hp1
HG03669.hp2
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-30831G>A
c.899-30831G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78916658
chr5:78916666 T
T
 C
C
 9 a0001c0003t0001g0344
a0001c0003t0002g0342
a0001c0003t0007g0132
others(6): Show 
a0001c0003t0001g0344
a0001c0003t0002g0342
a0001c0003t0007g0132
a0001c0003t0015g0346
a0001c0003t0025g0341
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0007c0012t0032g0180
 9 HG01069.hp1
HG01074.hp1
HG01167.hp2
others(6): Show 
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01192.hp1
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.899-30839A>G
c.899-30839A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78916666
chr5:78916849 AC
AC
 A
A
 92 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(89): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0181
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0141
a0001c0001t0011g0026
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0320
a0001c0003t0006g0254
a0001c0003t0018g0057
a0001c0007t0077g0070
a0001c0017t0002g0088
a0002c0002t0001g0345
a0002c0002t0003g0336
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
 92 HG00140.hp1
HG00280.hp1
HG00408.hp2
others(89): Show 
HG00140.hp1
HG00280.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp1
HG00621.hp2
HG00738.hp1
HG01069.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01175.hp1
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01952.hp1
HG01993.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02280.hp2
HG02523.hp2
HG02602.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp2
HG03579.hp2
HG03654.hp1
HG03834.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18952.hp2
NA18953.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp1
NA18962.hp2
NA18978.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18992.hp2
NA18993.hp1
NA19001.hp2
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19088.hp1
NA20129.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.899-31023delG
c.899-31023delG
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78916849
chr5:78916851 T
T
 A
A
 92 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(89): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0181
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0141
a0001c0001t0011g0026
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0320
a0001c0003t0006g0254
a0001c0003t0018g0057
a0001c0007t0077g0070
a0001c0017t0002g0088
a0002c0002t0001g0345
a0002c0002t0003g0336
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
 92 HG00140.hp1
HG00280.hp1
HG00408.hp2
others(89): Show 
HG00140.hp1
HG00280.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp1
HG00621.hp2
HG00738.hp1
HG01069.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01175.hp1
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01952.hp1
HG01993.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02280.hp2
HG02523.hp2
HG02602.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp2
HG03579.hp2
HG03654.hp1
HG03834.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18952.hp2
NA18953.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp1
NA18962.hp2
NA18978.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18992.hp2
NA18993.hp1
NA19001.hp2
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19088.hp1
NA20129.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.899-31024A>T
c.899-31024A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78916851
chr5:78916894 T
T
 C
C
 24 a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
others(21): Show 
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0007t0036g0259
 24 HG01109.hp2
HG01884.hp1
HG02055.hp1
others(21): Show 
HG01109.hp2
HG01884.hp1
HG02055.hp1
HG02109.hp1
HG02258.hp2
HG02559.hp2
HG02622.hp1
HG02647.hp2
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG03195.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA18906.hp1
NA18906.hp2
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.899-31067A>G
c.899-31067A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78916894
chr5:78917181 G
G
 A
A
 1 a0001c0001t0002g0261
a0001c0001t0002g0261
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.899-31354C>T
c.899-31354C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78917181
chr5:78917282 A
A
 G
G
 2 a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0003t0073g0099
a0001c0005t0036g0275
 2 HG02615.hp2
HG03540.hp1
HG02615.hp2
HG03540.hp1
 intron_variant MODIFIER c.899-31455T>C
c.899-31455T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78917282
chr5:78917429 AT
AT
 A
A
 19 a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
others(16): Show 
a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0012g0177
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0060g0210
a0001c0021t0003g0358
a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
 19 HG00544.hp2
HG01346.hp1
HG01496.hp1
others(16): Show 
HG00544.hp2
HG01346.hp1
HG01496.hp1
HG01943.hp2
HG01981.hp2
HG02074.hp1
HG02738.hp1
HG02896.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp1
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
 intron_variant MODIFIER c.899-31603delA
c.899-31603delA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78917429
chr5:78917594 C
C
 T
T
 1 a0001c0001t0007g0181
a0001c0001t0007g0181
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.899-31767G>A
c.899-31767G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78917594
chr5:78917738 C
C
 T
T
 2 a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0043g0090
a0001c0001t0044g0091
 2 HG00741.hp1
NA19030.hp1
HG00741.hp1
NA19030.hp1
 intron_variant MODIFIER c.899-31911G>A
c.899-31911G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78917738
chr5:78918020 A
A
 C
C
 16 a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
others(13): Show 
a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0012g0177
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0060g0210
a0001c0021t0003g0358
 16 HG00544.hp2
HG01346.hp1
HG01943.hp2
others(13): Show 
HG00544.hp2
HG01346.hp1
HG01943.hp2
HG01981.hp2
HG02074.hp1
HG02738.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp1
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19085.hp1
 intron_variant MODIFIER c.899-32193T>G
c.899-32193T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78918020
chr5:78918028 T
T
 G
G
 88 a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0003g0019
others(85): Show 
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0005g0038
a0001c0001t0008g0131
a0001c0001t0011g0046
a0001c0001t0021g0347
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0350
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
 89 HG00099.hp2
HG00280.hp2
HG00323.hp1
others(86): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp2
HG01070.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp2
HG02735.hp2
HG02886.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03017.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04184.hp1
NA18612.hp2
NA18747.hp1
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18960.hp1
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18972.hp1
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19043.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp2
NA20752.hp1
 intron_variant MODIFIER c.899-32201A>C
c.899-32201A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78918028
chr5:78918078 A
A
 G
G
 1 a0001c0001t0024g0182
a0001c0001t0024g0182
 1 HG01361.hp2
HG01361.hp2
 intron_variant MODIFIER c.899-32251T>C
c.899-32251T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78918078
chr5:78918366 T
T
 C
C
 2 a0001c0003t0002g0074
a0001c0005t0074g0073
a0001c0003t0002g0074
a0001c0005t0074g0073
 2 HG03471.hp1
HG03579.hp1
HG03471.hp1
HG03579.hp1
 intron_variant MODIFIER c.899-32539A>G
c.899-32539A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78918366
chr5:78918422 T
T
 G
G
 2 a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0003t0073g0099
a0001c0005t0036g0275
 2 HG02615.hp2
HG03540.hp1
HG02615.hp2
HG03540.hp1
 intron_variant MODIFIER c.899-32595A>C
c.899-32595A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78918422
chr5:78918549 G
G
 GCA
GCA
 84 a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0005g0195
others(81): Show 
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0005g0195
a0001c0001t0007g0333
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0326
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0267
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0060g0210
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0072g0323
a0003c0014t0015g0202
 84 HG00099.hp1
HG00140.hp2
HG00423.hp2
others(81): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp2
HG01943.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02074.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02293.hp2
HG02698.hp1
HG02735.hp2
HG02738.hp1
HG03041.hp1
HG03130.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03669.hp2
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19084.hp2
NA19085.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-32724_899-3272
others(6): Show 
c.899-32724_899-32723dupTG
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78918549
chr5:78918625 C
C
 T
T
 43 a0001c0001t0001g0315
a0001c0001t0003g0019
a0001c0001t0003g0021
others(40): Show 
a0001c0001t0001g0315
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0008g0131
a0001c0001t0011g0046
a0001c0001t0021g0347
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0004c0006t0016g0163
 43 HG00323.hp1
HG00408.hp1
HG00544.hp1
others(40): Show 
HG00323.hp1
HG00408.hp1
HG00544.hp1
HG00558.hp2
HG01515.hp1
HG01517.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG03834.hp1
HG03942.hp2
HG04184.hp1
NA18612.hp2
NA18747.hp1
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18972.hp1
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp2
NA20752.hp1
 intron_variant MODIFIER c.899-32798G>A
c.899-32798G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78918625
chr5:78918864 C
C
 A
A
 95 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(92): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0181
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0141
a0001c0001t0011g0026
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0320
a0001c0003t0006g0254
a0001c0003t0012g0166
a0001c0003t0018g0057
a0001c0007t0077g0070
a0001c0017t0002g0088
a0002c0002t0001g0345
a0002c0002t0003g0336
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
 95 HG00140.hp1
HG00280.hp1
HG00408.hp2
others(92): Show 
HG00140.hp1
HG00280.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp1
HG00621.hp2
HG00738.hp1
HG01069.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01175.hp1
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01952.hp1
HG01993.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02280.hp2
HG02523.hp2
HG02602.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp2
HG03579.hp2
HG03654.hp1
HG03834.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18952.hp2
NA18953.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp1
NA18962.hp2
NA18968.hp2
NA18978.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA19001.hp2
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19088.hp1
NA20129.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.899-33037G>T
c.899-33037G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78918864
chr5:78918968 G
G
 C
C
 1 a0002c0002t0014g0106
a0002c0002t0014g0106
 1 NA18978.hp1
NA18978.hp1
 intron_variant MODIFIER c.899-33141C>G
c.899-33141C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78918968
chr5:78919005 G
G
 A
A
 3 a0001c0001t0002g0201
a0001c0001t0003g0293
a0001c0001t0011g0242
a0001c0001t0002g0201
a0001c0001t0003g0293
a0001c0001t0011g0242
 3 NA18972.hp2
NA18988.hp2
NA18989.hp1
NA18972.hp2
NA18988.hp2
NA18989.hp1
 intron_variant MODIFIER c.899-33178C>T
c.899-33178C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78919005
chr5:78919216 T
T
 C
C
 1 a0001c0001t0021g0173
a0001c0001t0021g0173
 1 NA18943.hp2
NA18943.hp2
 intron_variant MODIFIER c.899-33389A>G
c.899-33389A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78919216
chr5:78919286 C
C
 T
T
 31 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(28): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0317
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0338
a0001c0003t0014g0220
a0006c0020t0003g0127
 31 HG00558.hp1
HG01261.hp2
HG01943.hp1
others(28): Show 
HG00558.hp1
HG01261.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02056.hp2
HG02135.hp1
HG02155.hp2
HG03491.hp2
HG03492.hp2
HG03654.hp2
HG04115.hp2
NA18942.hp1
NA18948.hp2
NA18950.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18979.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19011.hp2
NA19077.hp2
 intron_variant MODIFIER c.899-33459G>A
c.899-33459G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78919286
chr5:78919288 C
C
 T
T
 3 a0001c0003t0002g0354
a0001c0003t0035g0357
a0001c0005t0076g0268
a0001c0003t0002g0354
a0001c0003t0035g0357
a0001c0005t0076g0268
 3 HG02258.hp1
HG02451.hp1
HG02723.hp1
HG02258.hp1
HG02451.hp1
HG02723.hp1
 intron_variant MODIFIER c.899-33461G>A
c.899-33461G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78919288
chr5:78919353 T
T
 C
C
 1 a0003c0004t0062g0133
a0003c0004t0062g0133
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.899-33526A>G
c.899-33526A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78919353
chr5:78919484 C
C
 CATTT
CATTT
 33 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(30): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0317
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0235
a0001c0001t0008g0040
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0025g0316
a0001c0001t0051g0239
a0001c0003t0002g0338
a0001c0003t0014g0220
a0001c0003t0073g0099
a0001c0005t0036g0275
a0002c0002t0011g0234
a0006c0020t0003g0127
 33 HG00558.hp1
HG01261.hp2
HG01943.hp1
others(30): Show 
HG00558.hp1
HG01261.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02056.hp2
HG02135.hp1
HG02155.hp2
HG02615.hp2
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03654.hp2
NA18612.hp1
NA18942.hp1
NA18948.hp2
NA18950.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18979.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19011.hp2
NA19077.hp2
 intron_variant MODIFIER c.899-33661_899-3365
others(8): Show 
c.899-33661_899-33658dupAAAT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78919484
chr5:78919484 C
C
 T
T
 3 a0001c0001t0047g0043
a0001c0003t0012g0177
a0001c0003t0022g0178
a0001c0001t0047g0043
a0001c0003t0012g0177
a0001c0003t0022g0178
 3 HG03225.hp2
HG03471.hp2
HG04115.hp2
HG03225.hp2
HG03471.hp2
HG04115.hp2
 intron_variant MODIFIER c.899-33657G>A
c.899-33657G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78919484
chr5:78919558 T
T
 C
C
 1 a0002c0002t0002g0312
a0002c0002t0002g0312
 1 NA18612.hp2
NA18612.hp2
 intron_variant MODIFIER c.899-33731A>G
c.899-33731A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78919558
chr5:78919568 T
T
 C
C
 1 a0001c0003t0022g0178
a0001c0003t0022g0178
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.899-33741A>G
c.899-33741A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78919568
chr5:78919682 G
G
 A
A
 2 a0001c0001t0001g0263
a0001c0001t0010g0264
a0001c0001t0001g0263
a0001c0001t0010g0264
 2 HG03491.hp2
HG03492.hp2
HG03491.hp2
HG03492.hp2
 intron_variant MODIFIER c.899-33855C>T
c.899-33855C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78919682
chr5:78919772 T
T
 A
A
 133 a0001c0001t0001g0315
a0001c0001t0001g0335
a0001c0001t0002g0039
others(130): Show 
a0001c0001t0001g0315
a0001c0001t0001g0335
a0001c0001t0002g0039
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0004g0278
a0001c0001t0005g0038
a0001c0001t0005g0195
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0131
a0001c0001t0011g0046
a0001c0001t0018g0130
a0001c0001t0021g0347
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
a0005c0016t0002g0237
a0007c0012t0032g0180
 134 HG00099.hp2
HG00280.hp2
HG00323.hp1
others(131): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01943.hp2
HG01952.hp2
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02145.hp2
HG02258.hp1
HG02280.hp1
HG02293.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04184.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp1
NA18972.hp1
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp1
NA18992.hp1
NA18994.hp2
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19010.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19062.hp2
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.899-33945A>T
c.899-33945A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78919772
chr5:78919930 G
G
 C
C
 1 a0001c0003t0002g0342
a0001c0003t0002g0342
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.899-34103C>G
c.899-34103C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78919930
chr5:78919954 G
G
 C
C
 23 a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
others(20): Show 
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0089
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0007t0036g0259
 23 HG01884.hp1
HG02055.hp1
HG02109.hp1
others(20): Show 
HG01884.hp1
HG02055.hp1
HG02109.hp1
HG02258.hp2
HG02559.hp2
HG02622.hp1
HG02647.hp2
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG03195.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA18906.hp1
NA18906.hp2
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.899-34127C>G
c.899-34127C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78919954
chr5:78920042 G
G
 GA
GA
 66 a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0006g0267
others(63): Show 
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0006g0267
a0001c0007t0004g0100
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
 66 HG00099.hp1
HG00140.hp2
HG00423.hp2
others(63): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02293.hp2
HG02698.hp1
HG03041.hp1
HG03130.hp1
HG03540.hp2
HG03669.hp2
HG03710.hp1
NA18612.hp1
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-34216dupT
c.899-34216dupT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78920042
chr5:78920135 G
G
 A
A
 2 a0001c0003t0015g0346
a0001c0003t0046g0343
a0001c0003t0015g0346
a0001c0003t0046g0343
 2 HG01069.hp1
HG03491.hp1
HG01069.hp1
HG03491.hp1
 intron_variant MODIFIER c.899-34308C>T
c.899-34308C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78920135
chr5:78920553 C
C
 T
T
 66 a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0006g0267
others(63): Show 
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0006g0267
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
 66 HG00099.hp1
HG00140.hp2
HG00423.hp2
others(63): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02293.hp2
HG02698.hp1
HG03041.hp1
HG03130.hp1
HG03669.hp2
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.899-34726G>A
c.899-34726G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78920553
chr5:78920584 C
C
 T
T
 6 a0001c0001t0001g0236
a0001c0001t0002g0104
a0001c0001t0008g0223
others(3): Show 
a0001c0001t0001g0236
a0001c0001t0002g0104
a0001c0001t0008g0223
a0001c0001t0008g0297
a0001c0001t0011g0105
a0001c0001t0013g0170
 6 HG00280.hp1
NA18944.hp2
NA18959.hp1
others(3): Show 
HG00280.hp1
NA18944.hp2
NA18959.hp1
NA18983.hp2
NA19010.hp2
NA19066.hp1
 intron_variant MODIFIER c.898+34711G>A
c.898+34711G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78920584
chr5:78920654 C
C
 T
T
 2 a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0196
a0002c0002t0003g0197
 2 HG01070.hp2
HG01071.hp1
HG01070.hp2
HG01071.hp1
 intron_variant MODIFIER c.898+34641G>A
c.898+34641G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78920654
chr5:78920681 TA
TA
 T
T
 223 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(220): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0181
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 223 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(220): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02027.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp2
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02523.hp2
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03710.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.898+34613delT
c.898+34613delT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78920681
chr5:78921033 C
C
 T
T
 1 a0001c0003t0060g0210
a0001c0003t0060g0210
 1 HG00544.hp2
HG00544.hp2
 intron_variant MODIFIER c.898+34262G>A
c.898+34262G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78921033
chr5:78921055 G
G
 A
A
 192 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(189): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0181
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0141
a0001c0001t0011g0026
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
 192 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(189): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02027.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02258.hp2
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02523.hp2
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03710.hp1
HG03834.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18978.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19074.hp1
NA19077.hp1
NA19084.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.898+34240C>T
c.898+34240C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78921055
chr5:78921203 C
C
 A
A
 4 a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0007t0004g0100
others(1): Show 
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0007t0004g0100
a0001c0007t0068g0111
 4 HG02976.hp2
HG03041.hp2
HG03516.hp2
others(1): Show 
HG02976.hp2
HG03041.hp2
HG03516.hp2
HG03540.hp2
 intron_variant MODIFIER c.898+34092G>T
c.898+34092G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78921203
chr5:78921393 CAT
CAT
 C
C
 30 a0001c0001t0002g0039
a0001c0001t0005g0038
a0003c0004t0001g0001
others(27): Show 
a0001c0001t0002g0039
a0001c0001t0005g0038
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
 31 HG00099.hp2
HG00280.hp2
HG00423.hp1
others(28): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01952.hp2
HG01993.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02602.hp1
HG02683.hp1
HG02735.hp2
HG02886.hp2
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA18960.hp1
NA19043.hp1
 intron_variant MODIFIER c.898+33900_898+3390
others(6): Show 
c.898+33900_898+33901delAT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78921393
chr5:78921488 C
C
 T
T
 354 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(351): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 355 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(352): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.898+33807G>A
c.898+33807G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78921488
chr5:78921580 A
A
 G
G
 11 a0001c0001t0004g0278
a0001c0003t0002g0276
a0001c0003t0002g0354
others(8): Show 
a0001c0001t0004g0278
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0022t0006g0359
a0005c0016t0002g0237
 11 HG02055.hp2
HG02258.hp1
HG02451.hp1
others(8): Show 
HG02055.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02622.hp2
HG02723.hp1
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG03139.hp1
NA19043.hp2
 intron_variant MODIFIER c.898+33715T>C
c.898+33715T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78921580
chr5:78921856 A
A
 G
G
 2 a0002c0002t0002g0125
a0002c0002t0003g0129
a0002c0002t0002g0125
a0002c0002t0003g0129
 2 HG02004.hp2
HG03942.hp2
HG02004.hp2
HG03942.hp2
 intron_variant MODIFIER c.898+33439T>C
c.898+33439T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78921856
chr5:78921862 C
C
 G
G
 1 a0001c0005t0035g0165
a0001c0005t0035g0165
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.898+33433G>C
c.898+33433G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78921862
chr5:78921872 C
C
 T
T
 121 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(118): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0005g0038
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0014g0220
a0001c0003t0022g0178
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0070g0251
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0022t0006g0359
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
a0005c0016t0002g0237
a0006c0020t0003g0127
 122 HG00099.hp2
HG00280.hp2
HG00323.hp1
others(119): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01517.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp2
HG02056.hp2
HG02074.hp2
HG02080.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02280.hp1
HG02293.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp2
HG02886.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03139.hp1
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp2
HG04184.hp1
NA18612.hp2
NA18747.hp1
NA18942.hp1
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA18995.hp1
NA19002.hp1
NA19003.hp1
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19077.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp2
NA20752.hp1
 intron_variant MODIFIER c.898+33423G>A
c.898+33423G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78921872
chr5:78921876 G
G
 A
A
 1 a0002c0002t0002g0055
a0002c0002t0002g0055
 1 NA18993.hp2
NA18993.hp2
 intron_variant MODIFIER c.898+33419C>T
c.898+33419C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78921876
chr5:78922002 G
G
 A
A
 111 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(108): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0038
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0270
a0001c0003t0002g0338
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0014g0220
a0001c0003t0022g0178
a0001c0003t0031g0119
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
a0006c0020t0003g0127
 112 HG00099.hp2
HG00280.hp2
HG00323.hp1
others(109): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01517.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02717.hp2
HG02735.hp2
HG02886.hp2
HG02965.hp2
HG03017.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp2
HG04184.hp1
NA18612.hp2
NA18747.hp1
NA18942.hp1
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18969.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA18995.hp1
NA19002.hp1
NA19003.hp1
NA19011.hp2
NA19043.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19077.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp2
NA20752.hp1
 intron_variant MODIFIER c.898+33293C>T
c.898+33293C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78922002
chr5:78922036 G
G
 C
C
 2 a0001c0003t0002g0338
a0001c0003t0014g0220
a0001c0003t0002g0338
a0001c0003t0014g0220
 2 HG02056.hp2
HG02155.hp2
HG02056.hp2
HG02155.hp2
 intron_variant MODIFIER c.898+33259C>G
c.898+33259C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78922036
chr5:78922195 G
G
 A
A
 1 a0003c0004t0004g0149
a0003c0004t0004g0149
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.898+33100C>T
c.898+33100C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78922195
chr5:78922202 T
T
 G
G
 1 a0002c0002t0003g0225
a0002c0002t0003g0225
 1 NA19062.hp2
NA19062.hp2
 intron_variant MODIFIER c.898+33093A>C
c.898+33093A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78922202
chr5:78922209 G
G
 A
A
 1 a0002c0002t0003g0225
a0002c0002t0003g0225
 1 NA19062.hp2
NA19062.hp2
 intron_variant MODIFIER c.898+33086C>T
c.898+33086C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78922209
chr5:78922211 A
A
 AG
AG
 5 a0001c0001t0001g0335
a0001c0001t0010g0244
a0001c0001t0011g0026
others(2): Show 
a0001c0001t0001g0335
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0015t0027g0102
a0003c0004t0007g0331
 5 HG01981.hp2
HG02055.hp2
HG03654.hp2
others(2): Show 
HG01981.hp2
HG02055.hp2
HG03654.hp2
HG03927.hp2
NA18993.hp1
 intron_variant MODIFIER c.898+33083dupC
c.898+33083dupC
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78922211
chr5:78922211 A
A
 G
G
 1 a0002c0002t0003g0225
a0002c0002t0003g0225
 1 NA19062.hp2
NA19062.hp2
 intron_variant MODIFIER c.898+33084T>C
c.898+33084T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78922211
chr5:78922213 GA
GA
 G
G
 7 a0001c0001t0003g0063
a0001c0001t0005g0075
a0001c0001t0005g0076
others(4): Show 
a0001c0001t0003g0063
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0286
 7 HG00738.hp1
HG01069.hp2
HG01071.hp2
others(4): Show 
HG00738.hp1
HG01069.hp2
HG01071.hp2
HG01433.hp1
HG01993.hp1
HG02056.hp1
HG04184.hp2
 intron_variant MODIFIER c.898+33081delT
c.898+33081delT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78922213
chr5:78922214 A
A
 G
G
 262 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(259): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0181
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
 263 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(260): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp2
HG01070.hp1
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+33081T>C
c.898+33081T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78922214
chr5:78922385 G
G
 A
A
 5 a0001c0003t0002g0101
a0001c0003t0012g0232
a0001c0003t0061g0252
others(2): Show 
a0001c0003t0002g0101
a0001c0003t0012g0232
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
 5 HG01884.hp1
HG02622.hp1
HG02895.hp1
others(2): Show 
HG01884.hp1
HG02622.hp1
HG02895.hp1
HG03516.hp1
NA20300.hp1
 intron_variant MODIFIER c.898+32910C>T
c.898+32910C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78922385
chr5:78922452 A
A
 C
C
 2 a0001c0003t0012g0177
a0001c0003t0022g0178
a0001c0003t0012g0177
a0001c0003t0022g0178
 2 HG03225.hp2
HG03471.hp2
HG03225.hp2
HG03471.hp2
 intron_variant MODIFIER c.898+32843T>G
c.898+32843T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78922452
chr5:78922579 G
G
 A
A
 33 a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0092
others(30): Show 
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0092
a0001c0001t0002g0209
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0356
a0001c0001t0007g0333
a0001c0001t0018g0130
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0320
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0027g0114
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0021t0003g0358
 33 HG00544.hp2
HG00733.hp1
HG01168.hp2
others(30): Show 
HG00544.hp2
HG00733.hp1
HG01168.hp2
HG01346.hp1
HG01943.hp2
HG01981.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp1
HG02572.hp1
HG02572.hp2
HG02647.hp1
HG02738.hp1
HG02895.hp2
HG02897.hp1
HG02976.hp2
HG03041.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp1
HG03516.hp2
HG03540.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19074.hp1
NA19085.hp1
 intron_variant MODIFIER c.898+32716C>T
c.898+32716C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78922579
chr5:78922673 G
G
 A
A
 1 a0002c0002t0015g0053
a0002c0002t0015g0053
 1 NA18995.hp2
NA18995.hp2
 intron_variant MODIFIER c.898+32622C>T
c.898+32622C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78922673
chr5:78922687 G
G
 A
A
 1 a0001c0003t0070g0251
a0001c0003t0070g0251
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.898+32608C>T
c.898+32608C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78922687
chr5:78922747 A
A
 G
G
 1 a0001c0001t0005g0041
a0001c0001t0005g0041
 1 NA18747.hp2
NA18747.hp2
 intron_variant MODIFIER c.898+32548T>C
c.898+32548T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78922747
chr5:78922987 A
A
 T
T
 82 a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0003g0019
others(79): Show 
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0140
a0001c0001t0004g0083
a0001c0001t0005g0038
a0001c0001t0005g0171
a0001c0001t0008g0131
a0001c0001t0010g0141
a0001c0001t0011g0046
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0003t0002g0270
a0001c0003t0008g0116
a0001c0003t0031g0119
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
 83 HG00099.hp2
HG00280.hp2
HG00323.hp1
others(80): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01517.hp2
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02717.hp2
HG02735.hp2
HG02886.hp2
HG02965.hp2
HG03209.hp1
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04184.hp1
NA18612.hp2
NA18747.hp1
NA18947.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18972.hp1
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19043.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
 intron_variant MODIFIER c.898+32308T>A
c.898+32308T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78922987
chr5:78923469 G
G
 A
A
 4 a0001c0001t0004g0278
a0001c0003t0006g0103
a0001c0015t0027g0102
others(1): Show 
a0001c0001t0004g0278
a0001c0003t0006g0103
a0001c0015t0027g0102
a0005c0016t0002g0237
 4 HG02055.hp2
HG02622.hp2
HG02809.hp2
others(1): Show 
HG02055.hp2
HG02622.hp2
HG02809.hp2
HG02922.hp2
 intron_variant MODIFIER c.898+31826C>T
c.898+31826C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78923469
chr5:78923486 T
T
 C
C
 1 a0001c0001t0024g0182
a0001c0001t0024g0182
 1 HG01361.hp2
HG01361.hp2
 intron_variant MODIFIER c.898+31809A>G
c.898+31809A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78923486
chr5:78923585 C
C
 A
A
 1 a0002c0002t0026g0176
a0002c0002t0026g0176
 1 HG01978.hp2
HG01978.hp2
 intron_variant MODIFIER c.898+31710G>T
c.898+31710G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78923585
chr5:78923667 A
A
 G
G
 273 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(270): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0181
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0006g0014
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
 274 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(271): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+31628T>C
c.898+31628T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78923667
chr5:78923885 C
C
 T
T
 9 a0001c0003t0001g0344
a0001c0003t0002g0342
a0001c0003t0007g0132
others(6): Show 
a0001c0003t0001g0344
a0001c0003t0002g0342
a0001c0003t0007g0132
a0001c0003t0015g0346
a0001c0003t0025g0341
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0007c0012t0032g0180
 9 HG01069.hp1
HG01074.hp1
HG01167.hp2
others(6): Show 
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01192.hp1
HG03491.hp1
HG03927.hp1
HG04204.hp2
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.898+31410G>A
c.898+31410G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78923885
chr5:78924132 G
G
 A
A
 1 a0001c0001t0001g0031
a0001c0001t0001g0031
 1 NA18983.hp1
NA18983.hp1
 intron_variant MODIFIER c.898+31163C>T
c.898+31163C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78924132
chr5:78924191 G
G
 A
A
 39 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(36): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0317
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0008g0040
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0276
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0014g0220
a0001c0003t0035g0357
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0022t0006g0359
a0002c0002t0001g0345
a0003c0004t0003g0095
a0006c0020t0003g0127
 39 HG01261.hp2
HG01943.hp1
HG01975.hp1
others(36): Show 
HG01261.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02055.hp1
HG02056.hp2
HG02135.hp1
HG02155.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02683.hp2
HG02723.hp1
HG02965.hp1
HG03017.hp2
HG03491.hp2
HG03492.hp2
HG04115.hp2
NA18906.hp2
NA18942.hp1
NA18948.hp2
NA18950.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18979.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19011.hp2
NA19043.hp2
NA19077.hp2
NA19240.hp2
 intron_variant MODIFIER c.898+31104C>T
c.898+31104C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78924191
chr5:78924206 T
T
 C
C
 47 a0001c0001t0001g0315
a0001c0001t0003g0019
a0001c0001t0003g0021
others(44): Show 
a0001c0001t0001g0315
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0005g0171
a0001c0001t0008g0131
a0001c0001t0011g0046
a0001c0001t0021g0347
a0001c0001t0025g0316
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0011g0007
a0004c0006t0016g0163
 47 HG00323.hp1
HG00408.hp1
HG00438.hp2
others(44): Show 
HG00323.hp1
HG00408.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG01515.hp1
HG01517.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG03834.hp1
HG03942.hp2
HG04184.hp1
NA18612.hp2
NA18747.hp1
NA18947.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18972.hp1
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp2
NA20752.hp1
 intron_variant MODIFIER c.898+31089A>G
c.898+31089A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78924206
chr5:78924224 C
C
 A
A
 4 a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0006g0219
others(1): Show 
a0001c0001t0002g0261
a0001c0001t0004g0009
a0001c0001t0006g0219
a0001c0003t0018g0057
 4 HG02717.hp1
HG03098.hp2
HG03209.hp2
others(1): Show 
HG02717.hp1
HG03098.hp2
HG03209.hp2
NA20129.hp2
 intron_variant MODIFIER c.898+31071G>T
c.898+31071G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78924224
chr5:78924232 C
C
 T
T
 3 a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0007t0068g0111
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0007t0068g0111
 3 HG02976.hp2
HG03041.hp2
HG03516.hp2
HG02976.hp2
HG03041.hp2
HG03516.hp2
 intron_variant MODIFIER c.898+31063G>A
c.898+31063G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78924232
chr5:78924369 C
C
 T
T
 2 a0001c0001t0002g0261
a0001c0001t0020g0028
a0001c0001t0002g0261
a0001c0001t0020g0028
 2 HG02717.hp1
NA19009.hp1
HG02717.hp1
NA19009.hp1
 intron_variant MODIFIER c.898+30926G>A
c.898+30926G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78924369
chr5:78924380 T
T
 C
C
 9 a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
others(6): Show 
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0012g0350
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0069g0273
 9 HG00733.hp1
HG01168.hp2
HG01891.hp1
others(6): Show 
HG00733.hp1
HG01168.hp2
HG01891.hp1
HG02572.hp1
HG02572.hp2
HG02647.hp1
HG02895.hp2
HG02897.hp1
HG03453.hp1
 intron_variant MODIFIER c.898+30915A>G
c.898+30915A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78924380
chr5:78924803 G
G
 C
C
 1 a0001c0001t0004g0009
a0001c0001t0004g0009
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.898+30492C>G
c.898+30492C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78924803
chr5:78924863 A
A
 G
G
 2 a0001c0003t0012g0177
a0001c0003t0022g0178
a0001c0003t0012g0177
a0001c0003t0022g0178
 2 HG03225.hp2
HG03471.hp2
HG03225.hp2
HG03471.hp2
 intron_variant MODIFIER c.898+30432T>C
c.898+30432T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78924863
chr5:78924886 G
G
 A
A
 82 a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0003g0019
others(79): Show 
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0140
a0001c0001t0004g0083
a0001c0001t0005g0038
a0001c0001t0005g0171
a0001c0001t0008g0131
a0001c0001t0010g0141
a0001c0001t0011g0046
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0003t0002g0270
a0001c0003t0008g0116
a0001c0003t0031g0119
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
 83 HG00099.hp2
HG00280.hp2
HG00323.hp1
others(80): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01517.hp2
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02717.hp2
HG02735.hp2
HG02886.hp2
HG02965.hp2
HG03209.hp1
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04184.hp1
NA18612.hp2
NA18747.hp1
NA18947.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18972.hp1
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19043.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
 intron_variant MODIFIER c.898+30409C>T
c.898+30409C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78924886
chr5:78924943 C
C
 A
A
 3 a0001c0001t0003g0159
a0001c0001t0004g0058
a0001c0017t0002g0088
a0001c0001t0003g0159
a0001c0001t0004g0058
a0001c0017t0002g0088
 3 HG02886.hp1
HG03098.hp1
NA19030.hp2
HG02886.hp1
HG03098.hp1
NA19030.hp2
 intron_variant MODIFIER c.898+30352G>T
c.898+30352G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78924943
chr5:78925067 G
G
 A
A
 12 a0001c0001t0002g0092
a0001c0003t0002g0349
a0001c0003t0002g0351
others(9): Show 
a0001c0001t0002g0092
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0069g0273
 12 HG00733.hp1
HG01168.hp2
HG01891.hp1
others(9): Show 
HG00733.hp1
HG01168.hp2
HG01891.hp1
HG02572.hp1
HG02572.hp2
HG02647.hp1
HG02895.hp2
HG02897.hp1
HG03139.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
 intron_variant MODIFIER c.898+30228C>T
c.898+30228C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78925067
chr5:78925068 C
C
 T
T
 12 a0001c0001t0002g0092
a0001c0003t0002g0349
a0001c0003t0002g0351
others(9): Show 
a0001c0001t0002g0092
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0069g0273
 12 HG00733.hp1
HG01168.hp2
HG01891.hp1
others(9): Show 
HG00733.hp1
HG01168.hp2
HG01891.hp1
HG02572.hp1
HG02572.hp2
HG02647.hp1
HG02895.hp2
HG02897.hp1
HG03139.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
 intron_variant MODIFIER c.898+30227G>A
c.898+30227G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78925068
chr5:78925173 G
G
 A
A
 71 a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0001t0044g0091
others(68): Show 
a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0006g0267
a0001c0003t0009g0281
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
 71 HG00099.hp1
HG00140.hp2
HG00423.hp2
others(68): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02293.hp2
HG02698.hp1
HG03041.hp1
HG03130.hp1
HG03669.hp2
HG03710.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19030.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.898+30122C>T
c.898+30122C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78925173
chr5:78925209 A
A
 G
G
 9 a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
others(6): Show 
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0012g0350
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0069g0273
 9 HG00733.hp1
HG01168.hp2
HG01891.hp1
others(6): Show 
HG00733.hp1
HG01168.hp2
HG01891.hp1
HG02572.hp1
HG02572.hp2
HG02647.hp1
HG02895.hp2
HG02897.hp1
HG03453.hp1
 intron_variant MODIFIER c.898+30086T>C
c.898+30086T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78925209
chr5:78925411 T
T
 C
C
 18 a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0209
others(15): Show 
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0209
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0007g0333
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0320
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0022g0229
a0001c0003t0060g0210
a0001c0021t0003g0358
 18 HG00544.hp2
HG01346.hp1
HG01943.hp2
others(15): Show 
HG00544.hp2
HG01346.hp1
HG01943.hp2
HG01981.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp1
HG02738.hp1
HG03490.hp1
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19074.hp1
NA19085.hp1
 intron_variant MODIFIER c.898+29884A>G
c.898+29884A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78925411
chr5:78925549 A
A
 C
C
 9 a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
others(6): Show 
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0012g0350
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0069g0273
 9 HG00733.hp1
HG01168.hp2
HG01891.hp1
others(6): Show 
HG00733.hp1
HG01168.hp2
HG01891.hp1
HG02572.hp1
HG02572.hp2
HG02647.hp1
HG02895.hp2
HG02897.hp1
HG03453.hp1
 intron_variant MODIFIER c.898+29746T>G
c.898+29746T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78925549
chr5:78925574 AAGC
AAGC
 A
A
 82 a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0003g0019
others(79): Show 
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0140
a0001c0001t0004g0083
a0001c0001t0005g0038
a0001c0001t0005g0171
a0001c0001t0008g0131
a0001c0001t0010g0141
a0001c0001t0011g0046
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0003t0002g0270
a0001c0003t0008g0116
a0001c0003t0031g0119
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
 83 HG00099.hp2
HG00280.hp2
HG00323.hp1
others(80): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01517.hp2
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02717.hp2
HG02735.hp2
HG02886.hp2
HG02965.hp2
HG03209.hp1
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04184.hp1
NA18612.hp2
NA18747.hp1
NA18947.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18972.hp1
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19043.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
 intron_variant MODIFIER c.898+29718_898+2972
others(7): Show 
c.898+29718_898+29720delGCT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78925574
chr5:78925653 T
T
 C
C
 3 a0001c0001t0002g0092
a0001c0003t0012g0177
a0001c0003t0022g0178
a0001c0001t0002g0092
a0001c0003t0012g0177
a0001c0003t0022g0178
 3 HG03139.hp2
HG03225.hp2
HG03471.hp2
HG03139.hp2
HG03225.hp2
HG03471.hp2
 intron_variant MODIFIER c.898+29642A>G
c.898+29642A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78925653
chr5:78925681 A
A
 G
G
 12 a0001c0001t0002g0092
a0001c0003t0002g0349
a0001c0003t0002g0351
others(9): Show 
a0001c0001t0002g0092
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0069g0273
 12 HG00733.hp1
HG01168.hp2
HG01891.hp1
others(9): Show 
HG00733.hp1
HG01168.hp2
HG01891.hp1
HG02572.hp1
HG02572.hp2
HG02647.hp1
HG02895.hp2
HG02897.hp1
HG03139.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
 intron_variant MODIFIER c.898+29614T>C
c.898+29614T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78925681
chr5:78925713 C
C
 T
T
 12 a0001c0001t0002g0092
a0001c0003t0002g0349
a0001c0003t0002g0351
others(9): Show 
a0001c0001t0002g0092
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0069g0273
 12 HG00733.hp1
HG01168.hp2
HG01891.hp1
others(9): Show 
HG00733.hp1
HG01168.hp2
HG01891.hp1
HG02572.hp1
HG02572.hp2
HG02647.hp1
HG02895.hp2
HG02897.hp1
HG03139.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
 intron_variant MODIFIER c.898+29582G>A
c.898+29582G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78925713
chr5:78925780 C
C
 T
T
 22 a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0209
others(19): Show 
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0209
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0356
a0001c0001t0007g0333
a0001c0001t0018g0130
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0320
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0022g0229
a0001c0003t0060g0210
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0021t0003g0358
 22 HG00544.hp2
HG01346.hp1
HG01943.hp2
others(19): Show 
HG00544.hp2
HG01346.hp1
HG01943.hp2
HG01981.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp1
HG02738.hp1
HG02976.hp2
HG03041.hp2
HG03490.hp1
HG03516.hp2
HG03540.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19074.hp1
NA19085.hp1
 intron_variant MODIFIER c.898+29515G>A
c.898+29515G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78925780
chr5:78925814 T
T
 C
C
 1 a0002c0002t0005g0241
a0002c0002t0005g0241
 1 NA19065.hp1
NA19065.hp1
 intron_variant MODIFIER c.898+29481A>G
c.898+29481A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78925814
chr5:78925816 C
C
 G
G
 1 a0001c0001t0001g0023
a0001c0001t0001g0023
 1 HG02080.hp2
HG02080.hp2
 intron_variant MODIFIER c.898+29479G>C
c.898+29479G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78925816
chr5:78925862 T
T
 C
C
 1 a0005c0016t0002g0237
a0005c0016t0002g0237
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.898+29433A>G
c.898+29433A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78925862
chr5:78925938 G
G
 A
A
 12 a0001c0001t0002g0092
a0001c0003t0002g0349
a0001c0003t0002g0351
others(9): Show 
a0001c0001t0002g0092
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0069g0273
 12 HG00733.hp1
HG01168.hp2
HG01891.hp1
others(9): Show 
HG00733.hp1
HG01168.hp2
HG01891.hp1
HG02572.hp1
HG02572.hp2
HG02647.hp1
HG02895.hp2
HG02897.hp1
HG03139.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
 intron_variant MODIFIER c.898+29357C>T
c.898+29357C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78925938
chr5:78925971 G
G
 A
A
 1 a0004c0006t0016g0163
a0004c0006t0016g0163
 1 HG00323.hp1
HG00323.hp1
 intron_variant MODIFIER c.898+29324C>T
c.898+29324C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78925971
chr5:78926017 T
T
 G
G
 3 a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0011g0033
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0011g0033
 3 NA18954.hp2
NA18957.hp2
NA18970.hp2
NA18954.hp2
NA18957.hp2
NA18970.hp2
 intron_variant MODIFIER c.898+29278A>C
c.898+29278A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78926017
chr5:78926123 T
T
 C
C
 88 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(85): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0002g0005
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0172
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0007g0181
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0006g0254
a0001c0003t0012g0166
a0001c0003t0018g0057
a0001c0003t0034g0071
a0001c0007t0077g0070
a0001c0017t0002g0088
a0002c0002t0003g0336
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
 88 HG00140.hp1
HG00280.hp1
HG00408.hp2
others(85): Show 
HG00140.hp1
HG00280.hp1
HG00408.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp2
HG00738.hp1
HG01069.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01175.hp1
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01952.hp1
HG01993.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp2
HG02135.hp2
HG02280.hp2
HG02602.hp2
HG02698.hp2
HG02717.hp1
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03453.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03834.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18952.hp2
NA18953.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp1
NA18962.hp2
NA18968.hp2
NA18978.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA19001.hp2
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19077.hp1
NA20129.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+29172A>G
c.898+29172A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78926123
chr5:78926174 C
C
 A
A
 1 a0001c0003t0058g0045
a0001c0003t0058g0045
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.898+29121G>T
c.898+29121G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78926174
chr5:78926263 C
C
 A
A
 1 a0002c0002t0064g0285
a0002c0002t0064g0285
 1 HG01192.hp2
HG01192.hp2
 intron_variant MODIFIER c.898+29032G>T
c.898+29032G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78926263
chr5:78926364 G
G
 A
A
 39 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(36): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0317
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0008g0040
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0276
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0014g0220
a0001c0003t0035g0357
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0022t0006g0359
a0002c0002t0001g0345
a0003c0004t0003g0095
a0006c0020t0003g0127
 39 HG01261.hp2
HG01943.hp1
HG01975.hp1
others(36): Show 
HG01261.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02055.hp1
HG02056.hp2
HG02135.hp1
HG02155.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02683.hp2
HG02723.hp1
HG02965.hp1
HG03017.hp2
HG03491.hp2
HG03492.hp2
HG04115.hp2
NA18906.hp2
NA18942.hp1
NA18948.hp2
NA18950.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18979.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19011.hp2
NA19043.hp2
NA19077.hp2
NA19240.hp2
 intron_variant MODIFIER c.898+28931C>T
c.898+28931C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78926364
chr5:78926812 C
C
 T
T
 273 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(270): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0181
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0006g0014
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
 274 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(271): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+28483G>A
c.898+28483G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78926812
chr5:78926867 G
G
 T
T
 22 a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0209
others(19): Show 
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0209
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0356
a0001c0001t0007g0333
a0001c0001t0018g0130
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0320
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0022g0229
a0001c0003t0060g0210
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0021t0003g0358
 22 HG00544.hp2
HG01346.hp1
HG01943.hp2
others(19): Show 
HG00544.hp2
HG01346.hp1
HG01943.hp2
HG01981.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp1
HG02738.hp1
HG02976.hp2
HG03041.hp2
HG03490.hp1
HG03516.hp2
HG03540.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19074.hp1
NA19085.hp1
 intron_variant MODIFIER c.898+28428C>A
c.898+28428C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78926867
chr5:78926894 T
T
 A
A
 261 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(258): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0181
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0229
a0001c0003t0028g0051
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0006g0014
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
 262 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(259): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+28401A>T
c.898+28401A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78926894
chr5:78926969 C
C
 T
T
 1 a0001c0003t0002g0262
a0001c0003t0002g0262
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.898+28326G>A
c.898+28326G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78926969
chr5:78927015 A
A
 G
G
 1 a0003c0004t0001g0154
a0003c0004t0001g0154
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.898+28280T>C
c.898+28280T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78927015
chr5:78927134 G
G
 C
C
 3 a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
 3 HG01496.hp1
HG02896.hp1
HG03225.hp1
HG01496.hp1
HG02896.hp1
HG03225.hp1
 intron_variant MODIFIER c.898+28161C>G
c.898+28161C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78927134
chr5:78927143 C
C
 T
T
 239 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(236): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0007g0181
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0028g0051
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0036g0259
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0022t0006g0359
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0006g0014
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
 240 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(237): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+28152G>A
c.898+28152G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78927143
chr5:78927363 T
T
 C
C
 1 a0002c0002t0015g0296
a0002c0002t0015g0296
 1 NA18968.hp1
NA18968.hp1
 intron_variant MODIFIER c.898+27932A>G
c.898+27932A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78927363
chr5:78927375 A
A
 G
G
 12 a0001c0001t0002g0092
a0001c0003t0002g0349
a0001c0003t0002g0351
others(9): Show 
a0001c0001t0002g0092
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0069g0273
 12 HG00733.hp1
HG01168.hp2
HG01891.hp1
others(9): Show 
HG00733.hp1
HG01168.hp2
HG01891.hp1
HG02572.hp1
HG02572.hp2
HG02647.hp1
HG02895.hp2
HG02897.hp1
HG03139.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
 intron_variant MODIFIER c.898+27920T>C
c.898+27920T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78927375
chr5:78927443 A
A
 C
C
 1 a0002c0002t0002g0312
a0002c0002t0002g0312
 1 NA18612.hp2
NA18612.hp2
 intron_variant MODIFIER c.898+27852T>G
c.898+27852T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78927443
chr5:78927494 G
G
 C
C
 1 a0001c0003t0002g0342
a0001c0003t0002g0342
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.898+27801C>G
c.898+27801C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78927494
chr5:78927725 G
G
 C
C
 4 a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0007t0004g0100
others(1): Show 
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0007t0004g0100
a0001c0007t0068g0111
 4 HG02976.hp2
HG03041.hp2
HG03516.hp2
others(1): Show 
HG02976.hp2
HG03041.hp2
HG03516.hp2
HG03540.hp2
 intron_variant MODIFIER c.898+27570C>G
c.898+27570C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78927725
chr5:78927898 G
G
 C
C
 2 a0001c0001t0007g0115
a0001c0001t0031g0324
a0001c0001t0007g0115
a0001c0001t0031g0324
 2 HG02809.hp1
HG03130.hp2
HG02809.hp1
HG03130.hp2
 intron_variant MODIFIER c.898+27397C>G
c.898+27397C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78927898
chr5:78927967 C
C
 G
G
 1 a0002c0002t0019g0248
a0002c0002t0019g0248
 1 HG00673.hp1
HG00673.hp1
 intron_variant MODIFIER c.898+27328G>C
c.898+27328G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78927967
chr5:78927986 G
G
 C
C
 2 a0001c0001t0001g0245
a0001c0001t0003g0339
a0001c0001t0001g0245
a0001c0001t0003g0339
 2 HG02135.hp1
NA18960.hp2
HG02135.hp1
NA18960.hp2
 intron_variant MODIFIER c.898+27309C>G
c.898+27309C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78927986
chr5:78928048 C
C
 A
A
 1 a0001c0001t0002g0277
a0001c0001t0002g0277
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.898+27247G>T
c.898+27247G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78928048
chr5:78928172 A
A
 G
G
 2 a0001c0001t0007g0115
a0001c0001t0031g0324
a0001c0001t0007g0115
a0001c0001t0031g0324
 2 HG02809.hp1
HG03130.hp2
HG02809.hp1
HG03130.hp2
 intron_variant MODIFIER c.898+27123T>C
c.898+27123T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78928172
chr5:78928292 C
C
 T
T
 1 a0001c0003t0002g0342
a0001c0003t0002g0342
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.898+27003G>A
c.898+27003G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78928292
chr5:78928298 G
G
 A
A
 239 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(236): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0007g0181
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0028g0051
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0036g0259
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0022t0006g0359
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0006g0014
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
 240 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(237): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+26997C>T
c.898+26997C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78928298
chr5:78928305 C
C
 CT
CT
 47 a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0003t0001g0344
others(44): Show 
a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0003t0001g0344
a0001c0003t0002g0160
a0001c0003t0006g0212
a0001c0003t0006g0267
a0001c0003t0058g0045
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0306
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0121
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0023g0162
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0045g0302
a0002c0002t0055g0094
a0002c0002t0064g0285
a0002c0002t0071g0280
 47 HG00099.hp1
HG00140.hp2
HG00609.hp2
others(44): Show 
HG00099.hp1
HG00140.hp2
HG00609.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp1
HG01070.hp2
HG01071.hp1
HG01168.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01517.hp1
HG01975.hp2
HG01981.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02698.hp1
HG03669.hp2
HG03710.hp1
HG03927.hp1
HG04115.hp1
HG04204.hp2
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18946.hp1
NA18951.hp2
NA18963.hp2
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18995.hp2
NA19003.hp2
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.898+26989dupA
c.898+26989dupA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78928305
chr5:78928305 C
C
 CTT
CTT
 19 a0001c0003t0002g0269
a0002c0002t0002g0055
a0002c0002t0003g0068
others(16): Show 
a0001c0003t0002g0269
a0002c0002t0002g0055
a0002c0002t0003g0068
a0002c0002t0003g0247
a0002c0002t0004g0096
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0009g0067
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0013g0240
a0002c0002t0019g0303
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0042g0224
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0066g0355
a0002c0002t0067g0203
 19 HG00423.hp2
HG00438.hp1
HG00621.hp1
others(16): Show 
HG00423.hp2
HG00438.hp1
HG00621.hp1
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01175.hp2
HG01978.hp2
HG02004.hp1
HG02293.hp2
HG03041.hp1
NA18944.hp1
NA18949.hp2
NA18989.hp2
NA18993.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19004.hp1
 intron_variant MODIFIER c.898+26988_898+2698
others(6): Show 
c.898+26988_898+26989dupAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78928305
chr5:78928305 CT
CT
 C
C
 33 a0001c0001t0001g0335
a0001c0001t0003g0140
a0001c0001t0003g0256
others(30): Show 
a0001c0001t0001g0335
a0001c0001t0003g0140
a0001c0001t0003g0256
a0001c0001t0004g0278
a0001c0001t0005g0171
a0001c0001t0011g0046
a0001c0001t0047g0043
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0326
a0001c0003t0002g0082
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0320
a0001c0003t0003g0050
a0001c0003t0018g0260
a0001c0003t0028g0051
a0001c0003t0031g0119
a0001c0003t0041g0155
a0001c0003t0048g0266
a0001c0005t0017g0353
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0015t0027g0102
a0002c0002t0001g0299
a0002c0011t0053g0002
a0003c0004t0002g0243
a0003c0004t0004g0149
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0033g0282
a0003c0004t0072g0323
a0005c0016t0002g0237
 33 HG00323.hp2
HG00438.hp2
HG00673.hp2
others(30): Show 
HG00323.hp2
HG00438.hp2
HG00673.hp2
HG01243.hp2
HG01358.hp2
HG01884.hp1
HG01981.hp2
HG02055.hp2
HG02071.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp2
HG02451.hp2
HG02622.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03669.hp1
HG03927.hp2
HG04115.hp2
HG04184.hp1
NA18906.hp1
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18960.hp1
NA18994.hp1
NA19000.hp2
NA19010.hp1
 intron_variant MODIFIER c.898+26989delA
c.898+26989delA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78928305
chr5:78928305 CTT
CTT
 C
C
 97 a0001c0001t0001g0135
a0001c0001t0001g0315
a0001c0001t0001g0321
others(94): Show 
a0001c0001t0001g0135
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0002g0039
a0001c0001t0002g0209
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0257
a0001c0001t0004g0083
a0001c0001t0005g0038
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0007g0333
a0001c0001t0008g0131
a0001c0001t0010g0141
a0001c0001t0011g0242
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0059g0332
a0001c0003t0001g0049
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0022g0229
a0001c0003t0060g0210
a0001c0003t0070g0251
a0001c0005t0017g0255
a0001c0005t0035g0165
a0001c0005t0075g0112
a0001c0007t0004g0100
a0001c0008t0008g0118
a0001c0021t0003g0358
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0006g0014
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0025g0213
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0004c0006t0016g0163
 98 HG00099.hp2
HG00280.hp2
HG00323.hp1
others(95): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00642.hp1
HG00738.hp2
HG01070.hp1
HG01109.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01943.hp2
HG01952.hp2
HG01978.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02132.hp1
HG02155.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02723.hp2
HG02738.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03710.hp2
HG03942.hp2
NA18612.hp2
NA18747.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18972.hp1
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18992.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19043.hp1
NA19062.hp2
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20300.hp1
NA20752.hp1
 intron_variant MODIFIER c.898+26988_898+2698
others(6): Show 
c.898+26988_898+26989delAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78928305
chr5:78928305 CTTT
CTTT
 C
C
 55 a0001c0001t0001g0023
a0001c0001t0001g0084
a0001c0001t0001g0245
others(52): Show 
a0001c0001t0001g0023
a0001c0001t0001g0084
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0006g0356
a0001c0001t0008g0030
a0001c0001t0008g0040
a0001c0001t0008g0279
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0024g0182
a0001c0001t0040g0288
a0001c0001t0051g0239
a0001c0003t0002g0276
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0014g0220
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0032g0117
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0018g0308
a0002c0002t0026g0086
a0003c0004t0003g0095
a0003c0014t0015g0202
a0004c0006t0024g0175
a0006c0020t0003g0127
 55 HG01167.hp1
HG01258.hp1
HG01261.hp2
others(52): Show 
HG01167.hp1
HG01258.hp1
HG01261.hp2
HG01361.hp2
HG01943.hp1
HG01975.hp1
HG02027.hp2
HG02055.hp1
HG02056.hp2
HG02080.hp2
HG02135.hp1
HG02155.hp2
HG02258.hp1
HG02280.hp2
HG02559.hp1
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG02895.hp1
HG02965.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03139.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp2
HG03516.hp2
HG03654.hp1
HG03834.hp1
NA18906.hp2
NA18942.hp1
NA18948.hp2
NA18950.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18979.hp2
NA18985.hp2
NA18989.hp1
NA18995.hp1
NA19009.hp2
NA19011.hp2
NA19043.hp2
NA19077.hp2
NA19240.hp2
 intron_variant MODIFIER c.898+26987_898+2698
others(7): Show 
c.898+26987_898+26989delAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78928305
chr5:78928305 CTTTT
CTTTT
 C
C
 75 a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
others(72): Show 
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0002g0005
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0172
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0007g0181
a0001c0001t0008g0036
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0223
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0011g0105
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0028
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0006g0254
a0001c0003t0018g0057
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0017t0002g0088
a0002c0002t0003g0336
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0221
a0004c0006t0024g0061
 75 HG00140.hp1
HG00280.hp1
HG00408.hp2
others(72): Show 
HG00140.hp1
HG00280.hp1
HG00408.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp2
HG00738.hp1
HG01069.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01175.hp1
HG01261.hp1
HG01358.hp1
HG01433.hp1
HG01496.hp2
HG01952.hp1
HG01993.hp1
HG02056.hp1
HG02071.hp2
HG02135.hp2
HG02451.hp1
HG02602.hp2
HG02615.hp2
HG02698.hp2
HG02717.hp1
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp2
HG03834.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18952.hp2
NA18957.hp1
NA18962.hp2
NA18978.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18992.hp2
NA18993.hp1
NA19001.hp2
NA19004.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19077.hp1
NA20129.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+26986_898+2698
others(8): Show 
c.898+26986_898+26989delAAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78928305
chr5:78928305 CTTTTTTT
others(2): Show 
CTTTTTTTTT
 C
C
 9 a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
others(6): Show 
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0012g0350
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0069g0273
 9 HG00733.hp1
HG01168.hp2
HG01891.hp1
others(6): Show 
HG00733.hp1
HG01168.hp2
HG01891.hp1
HG02572.hp1
HG02572.hp2
HG02647.hp1
HG02895.hp2
HG02897.hp1
HG03453.hp1
 intron_variant MODIFIER c.898+26981_898+2698
others(13): Show 
c.898+26981_898+26989delAAAAAAAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78928305
chr5:78928305 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 C
C
 3 a0001c0001t0002g0092
a0001c0003t0012g0177
a0001c0003t0022g0178
a0001c0001t0002g0092
a0001c0003t0012g0177
a0001c0003t0022g0178
 3 HG03139.hp2
HG03225.hp2
HG03471.hp2
HG03139.hp2
HG03225.hp2
HG03471.hp2
 intron_variant MODIFIER c.898+26980_898+2698
others(14): Show 
c.898+26980_898+26989delAAAAAAAAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78928305
chr5:78928376 T
T
 C
C
 12 a0001c0001t0002g0092
a0001c0003t0002g0349
a0001c0003t0002g0351
others(9): Show 
a0001c0001t0002g0092
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0069g0273
 12 HG00733.hp1
HG01168.hp2
HG01891.hp1
others(9): Show 
HG00733.hp1
HG01168.hp2
HG01891.hp1
HG02572.hp1
HG02572.hp2
HG02647.hp1
HG02895.hp2
HG02897.hp1
HG03139.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
 intron_variant MODIFIER c.898+26919A>G
c.898+26919A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78928376
chr5:78928508 G
G
 T
T
 193 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(190): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0007g0181
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0141
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0028g0051
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0007t0036g0259
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0017t0002g0088
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0006g0014
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
 194 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(191): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp2
HG02145.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp1
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18972.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA19001.hp2
NA19002.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+26787C>A
c.898+26787C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78928508
chr5:78928560 C
C
 G
G
 1 a0001c0001t0004g0328
a0001c0001t0004g0328
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.898+26735G>C
c.898+26735G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78928560
chr5:78928611 C
C
 T
T
 1 a0001c0003t0002g0262
a0001c0003t0002g0262
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.898+26684G>A
c.898+26684G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78928611
chr5:78928618 T
T
 G
G
 2 a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0003t0073g0099
a0001c0005t0036g0275
 2 HG02615.hp2
HG03540.hp1
HG02615.hp2
HG03540.hp1
 intron_variant MODIFIER c.898+26677A>C
c.898+26677A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78928618
chr5:78928623 C
C
 G
G
 4 a0001c0001t0004g0278
a0001c0003t0006g0103
a0001c0015t0027g0102
others(1): Show 
a0001c0001t0004g0278
a0001c0003t0006g0103
a0001c0015t0027g0102
a0005c0016t0002g0237
 4 HG02055.hp2
HG02622.hp2
HG02809.hp2
others(1): Show 
HG02055.hp2
HG02622.hp2
HG02809.hp2
HG02922.hp2
 intron_variant MODIFIER c.898+26672G>C
c.898+26672G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78928623
chr5:78928640 G
G
 A
A
 1 a0001c0003t0001g0326
a0001c0003t0001g0326
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.898+26655C>T
c.898+26655C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78928640
chr5:78928687 G
G
 T
T
 1 a0002c0002t0007g0313
a0002c0002t0007g0313
 1 NA19002.hp1
NA19002.hp1
 intron_variant MODIFIER c.898+26608C>A
c.898+26608C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78928687
chr5:78928809 A
A
 T
T
 273 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(270): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0181
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0006g0014
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
 274 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(271): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+26486T>A
c.898+26486T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78928809
chr5:78928834 A
A
 G
G
 12 a0001c0001t0002g0092
a0001c0003t0002g0349
a0001c0003t0002g0351
others(9): Show 
a0001c0001t0002g0092
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0069g0273
 12 HG00733.hp1
HG01168.hp2
HG01891.hp1
others(9): Show 
HG00733.hp1
HG01168.hp2
HG01891.hp1
HG02572.hp1
HG02572.hp2
HG02647.hp1
HG02895.hp2
HG02897.hp1
HG03139.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
 intron_variant MODIFIER c.898+26461T>C
c.898+26461T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78928834
chr5:78928905 C
C
 T
T
 1 a0001c0001t0004g0278
a0001c0001t0004g0278
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.898+26390G>A
c.898+26390G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78928905
chr5:78929547 T
T
 C
C
 3 a0001c0003t0002g0276
a0001c0005t0032g0117
a0001c0022t0006g0359
a0001c0003t0002g0276
a0001c0005t0032g0117
a0001c0022t0006g0359
 3 HG02559.hp1
HG02965.hp1
NA19043.hp2
HG02559.hp1
HG02965.hp1
NA19043.hp2
 intron_variant MODIFIER c.898+25748A>G
c.898+25748A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78929547
chr5:78929556 C
C
 T
T
 4 a0001c0001t0034g0072
a0001c0003t0002g0013
a0001c0003t0034g0071
others(1): Show 
a0001c0001t0034g0072
a0001c0003t0002g0013
a0001c0003t0034g0071
a0001c0007t0077g0070
 4 HG01167.hp1
HG02818.hp1
HG03139.hp1
others(1): Show 
HG01167.hp1
HG02818.hp1
HG03139.hp1
HG03195.hp2
 intron_variant MODIFIER c.898+25739G>A
c.898+25739G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78929556
chr5:78929598 C
C
 T
T
 2 a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0256
a0001c0001t0003g0257
 2 NA18968.hp2
NA18994.hp1
NA18968.hp2
NA18994.hp1
 intron_variant MODIFIER c.898+25697G>A
c.898+25697G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78929598
chr5:78929645 T
T
 C
C
 22 a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0209
others(19): Show 
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0209
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0356
a0001c0001t0007g0333
a0001c0001t0018g0130
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0320
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0022g0229
a0001c0003t0060g0210
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0021t0003g0358
 22 HG00544.hp2
HG01346.hp1
HG01943.hp2
others(19): Show 
HG00544.hp2
HG01346.hp1
HG01943.hp2
HG01981.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp1
HG02738.hp1
HG02976.hp2
HG03041.hp2
HG03490.hp1
HG03516.hp2
HG03540.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19074.hp1
NA19085.hp1
 intron_variant MODIFIER c.898+25650A>G
c.898+25650A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78929645
chr5:78929652 G
G
 A
A
 2 a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0003t0073g0099
a0001c0005t0036g0275
 2 HG02615.hp2
HG03540.hp1
HG02615.hp2
HG03540.hp1
 intron_variant MODIFIER c.898+25643C>T
c.898+25643C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78929652
chr5:78929659 G
G
 C
C
 6 a0001c0003t0002g0270
a0001c0003t0008g0116
a0001c0003t0031g0119
others(3): Show 
a0001c0003t0002g0270
a0001c0003t0008g0116
a0001c0003t0031g0119
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
 6 HG01243.hp2
HG02615.hp1
HG02717.hp2
others(3): Show 
HG01243.hp2
HG02615.hp1
HG02717.hp2
HG02965.hp2
HG03209.hp1
HG03486.hp1
 intron_variant MODIFIER c.898+25636C>G
c.898+25636C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78929659
chr5:78929670 G
G
 A
A
 12 a0001c0001t0002g0092
a0001c0003t0002g0349
a0001c0003t0002g0351
others(9): Show 
a0001c0001t0002g0092
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0069g0273
 12 HG00733.hp1
HG01168.hp2
HG01891.hp1
others(9): Show 
HG00733.hp1
HG01168.hp2
HG01891.hp1
HG02572.hp1
HG02572.hp2
HG02647.hp1
HG02895.hp2
HG02897.hp1
HG03139.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
 intron_variant MODIFIER c.898+25625C>T
c.898+25625C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78929670
chr5:78929792 CA
CA
 C
C
 222 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(219): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0200
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0141
a0001c0001t0010g0244
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0320
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0028g0051
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0048g0266
a0001c0003t0060g0210
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0021t0003g0358
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0006g0014
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0175
a0005c0016t0002g0237
 223 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(220): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp1
NA18992.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+25502delT
c.898+25502delT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78929792
chr5:78929792 CAA
CAA
 C
C
 41 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(38): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0317
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0008g0040
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0264
a0001c0001t0011g0033
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0276
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0014g0220
a0001c0003t0022g0229
a0001c0003t0035g0357
a0001c0003t0061g0252
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0008g0311
a0003c0004t0003g0095
a0003c0004t0004g0149
a0003c0004t0014g0164
a0006c0020t0003g0127
 41 HG01261.hp2
HG01943.hp1
HG01975.hp1
others(38): Show 
HG01261.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01993.hp2
HG02056.hp2
HG02135.hp1
HG02155.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02683.hp2
HG02723.hp1
HG02895.hp1
HG02965.hp1
HG03017.hp2
HG03491.hp2
HG03492.hp2
HG03669.hp1
HG04115.hp2
NA18942.hp1
NA18948.hp2
NA18950.hp1
NA18953.hp1
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18979.hp2
NA18985.hp2
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19011.hp2
NA19043.hp2
NA19063.hp1
NA19077.hp2
 intron_variant MODIFIER c.898+25501_898+2550
others(6): Show 
c.898+25501_898+25502delTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78929792
chr5:78929813 A
A
 G
G
 1 a0001c0003t0006g0254
a0001c0003t0006g0254
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.898+25482T>C
c.898+25482T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78929813
chr5:78929825 TC
TC
 T
T
 22 a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0209
others(19): Show 
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0209
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0356
a0001c0001t0007g0333
a0001c0001t0018g0130
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0320
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0022g0229
a0001c0003t0060g0210
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0021t0003g0358
 22 HG00544.hp2
HG01346.hp1
HG01943.hp2
others(19): Show 
HG00544.hp2
HG01346.hp1
HG01943.hp2
HG01981.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp1
HG02738.hp1
HG02976.hp2
HG03041.hp2
HG03490.hp1
HG03516.hp2
HG03540.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19074.hp1
NA19085.hp1
 intron_variant MODIFIER c.898+25469delG
c.898+25469delG
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78929825
chr5:78929857 A
A
 G
G
 5 a0001c0003t0006g0267
a0001c0009t0016g0271
a0001c0009t0016g0272
others(2): Show 
a0001c0003t0006g0267
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
 5 HG01884.hp2
HG01891.hp2
HG02145.hp1
others(2): Show 
HG01884.hp2
HG01891.hp2
HG02145.hp1
HG03130.hp1
NA19240.hp1
 intron_variant MODIFIER c.898+25438T>C
c.898+25438T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78929857
chr5:78930089 A
A
 G
G
 1 a0002c0002t0003g0247
a0002c0002t0003g0247
 1 NA19000.hp1
NA19000.hp1
 intron_variant MODIFIER c.898+25206T>C
c.898+25206T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78930089
chr5:78930185 C
C
 T
T
 36 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(33): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0317
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0008g0040
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0276
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0014g0220
a0001c0003t0035g0357
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0022t0006g0359
a0002c0002t0001g0345
a0003c0004t0003g0095
a0006c0020t0003g0127
 36 HG01261.hp2
HG01943.hp1
HG01975.hp1
others(33): Show 
HG01261.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02055.hp1
HG02056.hp2
HG02135.hp1
HG02155.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02683.hp2
HG02723.hp1
HG02965.hp1
HG03017.hp2
HG03491.hp2
HG03492.hp2
HG04115.hp2
NA18906.hp2
NA18942.hp1
NA18948.hp2
NA18950.hp1
NA18953.hp1
NA18960.hp2
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18979.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19011.hp2
NA19043.hp2
NA19077.hp2
NA19240.hp2
 intron_variant MODIFIER c.898+25110G>A
c.898+25110G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78930185
chr5:78930191 G
G
 C
C
 12 a0001c0001t0002g0092
a0001c0003t0002g0349
a0001c0003t0002g0351
others(9): Show 
a0001c0001t0002g0092
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0069g0273
 12 HG00733.hp1
HG01168.hp2
HG01891.hp1
others(9): Show 
HG00733.hp1
HG01168.hp2
HG01891.hp1
HG02572.hp1
HG02572.hp2
HG02647.hp1
HG02895.hp2
HG02897.hp1
HG03139.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
 intron_variant MODIFIER c.898+25104C>G
c.898+25104C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78930191
chr5:78930192 C
C
 G
G
 36 a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
others(33): Show 
a0001c0001t0001g0135
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0002g0317
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0008g0040
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0276
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0014g0220
a0001c0003t0035g0357
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0022t0006g0359
a0002c0002t0001g0345
a0003c0004t0003g0095
a0006c0020t0003g0127
 36 HG01261.hp2
HG01943.hp1
HG01975.hp1
others(33): Show 
HG01261.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02055.hp1
HG02056.hp2
HG02135.hp1
HG02155.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02683.hp2
HG02723.hp1
HG02965.hp1
HG03017.hp2
HG03491.hp2
HG03492.hp2
HG04115.hp2
NA18906.hp2
NA18942.hp1
NA18948.hp2
NA18950.hp1
NA18953.hp1
NA18960.hp2
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18979.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18995.hp1
NA19011.hp2
NA19043.hp2
NA19077.hp2
NA19240.hp2
 intron_variant MODIFIER c.898+25103G>C
c.898+25103G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78930192
chr5:78930273 T
T
 A
A
 3 a0001c0001t0001g0087
a0001c0001t0010g0244
a0001c0001t0014g0199
a0001c0001t0001g0087
a0001c0001t0010g0244
a0001c0001t0014g0199
 3 HG01074.hp2
HG01106.hp2
HG03654.hp2
HG01074.hp2
HG01106.hp2
HG03654.hp2
 intron_variant MODIFIER c.898+25022A>T
c.898+25022A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78930273
chr5:78930307 G
G
 A
A
 9 a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
others(6): Show 
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0012g0350
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0069g0273
 9 HG00733.hp1
HG01168.hp2
HG01891.hp1
others(6): Show 
HG00733.hp1
HG01168.hp2
HG01891.hp1
HG02572.hp1
HG02572.hp2
HG02647.hp1
HG02895.hp2
HG02897.hp1
HG03453.hp1
 intron_variant MODIFIER c.898+24988C>T
c.898+24988C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78930307
chr5:78930318 T
T
 C
C
 1 a0001c0003t0012g0350
a0001c0003t0012g0350
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.898+24977A>G
c.898+24977A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78930318
chr5:78930324 T
T
 C
C
 1 a0001c0003t0002g0262
a0001c0003t0002g0262
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.898+24971A>G
c.898+24971A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78930324
chr5:78930404 T
T
 C
C
 17 a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0209
others(14): Show 
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0209
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0007g0333
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0320
a0001c0003t0003g0050
a0001c0003t0005g0060
a0001c0003t0022g0229
a0001c0003t0060g0210
a0001c0021t0003g0358
 17 HG00544.hp2
HG01346.hp1
HG01943.hp2
others(14): Show 
HG00544.hp2
HG01346.hp1
HG01943.hp2
HG01981.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp1
HG02738.hp1
HG03490.hp1
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19074.hp1
 intron_variant MODIFIER c.898+24891A>G
c.898+24891A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78930404
chr5:78930448 G
G
 GA
GA
 251 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(248): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0007g0181
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0338
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0036g0259
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0022t0006g0359
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0006g0014
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
 252 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(249): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+24846dupT
c.898+24846dupT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78930448
chr5:78930536 T
T
 G
G
 22 a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0209
others(19): Show 
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0209
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0356
a0001c0001t0007g0333
a0001c0001t0018g0130
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0320
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0022g0229
a0001c0003t0060g0210
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0021t0003g0358
 22 HG00544.hp2
HG01346.hp1
HG01943.hp2
others(19): Show 
HG00544.hp2
HG01346.hp1
HG01943.hp2
HG01981.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp1
HG02738.hp1
HG02976.hp2
HG03041.hp2
HG03490.hp1
HG03516.hp2
HG03540.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19074.hp1
NA19085.hp1
 intron_variant MODIFIER c.898+24759A>C
c.898+24759A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78930536
chr5:78930801 G
G
 A
A
 1 a0001c0003t0002g0262
a0001c0003t0002g0262
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.898+24494C>T
c.898+24494C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78930801
chr5:78930891 A
A
 C
C
 2 a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0003t0073g0099
a0001c0005t0036g0275
 2 HG02615.hp2
HG03540.hp1
HG02615.hp2
HG03540.hp1
 intron_variant MODIFIER c.898+24404T>G
c.898+24404T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78930891
chr5:78930916 C
C
 T
T
 1 a0001c0021t0003g0358
a0001c0021t0003g0358
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.898+24379G>A
c.898+24379G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78930916
chr5:78930961 T
T
 C
C
 2 a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0003t0073g0099
a0001c0005t0036g0275
 2 HG02615.hp2
HG03540.hp1
HG02615.hp2
HG03540.hp1
 intron_variant MODIFIER c.898+24334A>G
c.898+24334A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78930961
chr5:78931039 G
G
 A
A
 1 a0001c0003t0002g0262
a0001c0003t0002g0262
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.898+24256C>T
c.898+24256C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78931039
chr5:78931078 C
C
 T
T
 1 a0001c0001t0001g0265
a0001c0001t0001g0265
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.898+24217G>A
c.898+24217G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78931078
chr5:78931124 T
T
 C
C
 2 a0001c0001t0007g0115
a0001c0001t0031g0324
a0001c0001t0007g0115
a0001c0001t0031g0324
 2 HG02809.hp1
HG03130.hp2
HG02809.hp1
HG03130.hp2
 intron_variant MODIFIER c.898+24171A>G
c.898+24171A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78931124
chr5:78931392 T
T
 C
C
 4 a0001c0001t0004g0278
a0001c0003t0006g0103
a0001c0015t0027g0102
others(1): Show 
a0001c0001t0004g0278
a0001c0003t0006g0103
a0001c0015t0027g0102
a0005c0016t0002g0237
 4 HG02055.hp2
HG02622.hp2
HG02809.hp2
others(1): Show 
HG02055.hp2
HG02622.hp2
HG02809.hp2
HG02922.hp2
 intron_variant MODIFIER c.898+23903A>G
c.898+23903A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78931392
chr5:78931474 C
C
 T
T
 1 a0001c0001t0001g0031
a0001c0001t0001g0031
 1 NA18983.hp1
NA18983.hp1
 intron_variant MODIFIER c.898+23821G>A
c.898+23821G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78931474
chr5:78931682 A
A
 ACT
ACT
 255 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(252): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0181
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0338
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0022t0006g0359
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0006g0014
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
 256 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(253): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+23611_898+2361
others(6): Show 
c.898+23611_898+23612dupAG
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78931682
chr5:78931845 T
T
 C
C
 82 a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0003g0019
others(79): Show 
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0140
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0004g0083
a0001c0001t0005g0038
a0001c0001t0008g0131
a0001c0001t0010g0141
a0001c0001t0011g0046
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0003t0002g0270
a0001c0003t0008g0116
a0001c0003t0031g0119
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
 83 HG00099.hp2
HG00280.hp2
HG00323.hp1
others(80): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01517.hp2
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02717.hp2
HG02735.hp2
HG02886.hp2
HG02965.hp2
HG03209.hp1
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04184.hp1
NA18612.hp2
NA18747.hp1
NA18947.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18959.hp2
NA18960.hp1
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18972.hp1
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19043.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
 intron_variant MODIFIER c.898+23450A>G
c.898+23450A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78931845
chr5:78931877 A
A
 G
G
 15 a0001c0001t0002g0092
a0001c0001t0007g0250
a0001c0001t0043g0090
others(12): Show 
a0001c0001t0002g0092
a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0028g0348
a0001c0003t0069g0273
 15 HG00733.hp1
HG00741.hp1
HG01168.hp2
others(12): Show 
HG00733.hp1
HG00741.hp1
HG01168.hp2
HG01243.hp1
HG01891.hp1
HG02572.hp1
HG02572.hp2
HG02647.hp1
HG02895.hp2
HG02897.hp1
HG03139.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
NA19030.hp1
 intron_variant MODIFIER c.898+23418T>C
c.898+23418T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78931877
chr5:78931939 T
T
 C
C
 2 a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0003t0073g0099
a0001c0005t0036g0275
 2 HG02615.hp2
HG03540.hp1
HG02615.hp2
HG03540.hp1
 intron_variant MODIFIER c.898+23356A>G
c.898+23356A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78931939
chr5:78931965 G
G
 A
A
 1 a0001c0003t0025g0341
a0001c0003t0025g0341
 1 HG01167.hp2
HG01167.hp2
 intron_variant MODIFIER c.898+23330C>T
c.898+23330C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78931965
chr5:78932078 A
A
 G
G
 1 a0002c0002t0066g0355
a0002c0002t0066g0355
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.898+23217T>C
c.898+23217T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78932078
chr5:78932119 A
A
 G
G
 2 a0001c0001t0007g0115
a0001c0001t0031g0324
a0001c0001t0007g0115
a0001c0001t0031g0324
 2 HG02809.hp1
HG03130.hp2
HG02809.hp1
HG03130.hp2
 intron_variant MODIFIER c.898+23176T>C
c.898+23176T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78932119
chr5:78932249 C
C
 T
T
 1 a0001c0005t0035g0165
a0001c0005t0035g0165
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.898+23046G>A
c.898+23046G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78932249
chr5:78932250 G
G
 T
T
 2 a0001c0003t0028g0051
a0001c0003t0048g0266
a0001c0003t0028g0051
a0001c0003t0048g0266
 2 HG03486.hp2
NA18906.hp1
HG03486.hp2
NA18906.hp1
 intron_variant MODIFIER c.898+23045C>A
c.898+23045C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78932250
chr5:78932264 G
G
 C
C
 1 a0003c0004t0004g0150
a0003c0004t0004g0150
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.898+23031C>G
c.898+23031C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78932264
chr5:78932286 G
G
 T
T
 3 a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0007t0068g0111
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0007t0068g0111
 3 HG02976.hp2
HG03041.hp2
HG03516.hp2
HG02976.hp2
HG03041.hp2
HG03516.hp2
 intron_variant MODIFIER c.898+23009C>A
c.898+23009C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78932286
chr5:78932375 G
G
 C
C
 11 a0001c0001t0002g0092
a0001c0003t0002g0349
a0001c0003t0002g0351
others(8): Show 
a0001c0001t0002g0092
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0069g0273
 11 HG00733.hp1
HG01168.hp2
HG01891.hp1
others(8): Show 
HG00733.hp1
HG01168.hp2
HG01891.hp1
HG02572.hp1
HG02647.hp1
HG02895.hp2
HG02897.hp1
HG03139.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
 intron_variant MODIFIER c.898+22920C>G
c.898+22920C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78932375
chr5:78932376 A
A
 G
G
 244 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(241): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0181
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0022t0006g0359
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0006g0014
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
 245 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(242): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+22919T>C
c.898+22919T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78932376
chr5:78932395 C
C
 A
A
 1 a0006c0020t0003g0127
a0006c0020t0003g0127
 1 NA18950.hp1
NA18950.hp1
 intron_variant MODIFIER c.898+22900G>T
c.898+22900G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78932395
chr5:78932443 T
T
 C
C
 8 a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
others(5): Show 
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0012g0350
a0001c0003t0028g0348
a0001c0003t0069g0273
 8 HG00733.hp1
HG01168.hp2
HG01891.hp1
others(5): Show 
HG00733.hp1
HG01168.hp2
HG01891.hp1
HG02572.hp1
HG02647.hp1
HG02895.hp2
HG02897.hp1
HG03453.hp1
 intron_variant MODIFIER c.898+22852A>G
c.898+22852A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78932443
chr5:78932916 T
T
 G
G
 5 a0001c0003t0006g0267
a0001c0009t0016g0271
a0001c0009t0016g0272
others(2): Show 
a0001c0003t0006g0267
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
 5 HG01884.hp2
HG01891.hp2
HG02145.hp1
others(2): Show 
HG01884.hp2
HG01891.hp2
HG02145.hp1
HG03130.hp1
NA19240.hp1
 intron_variant MODIFIER c.898+22379A>C
c.898+22379A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78932916
chr5:78933147 G
G
 A
A
 2 a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0193
a0002c0002t0009g0194
 2 HG02004.hp1
HG02293.hp2
HG02004.hp1
HG02293.hp2
 intron_variant MODIFIER c.898+22148C>T
c.898+22148C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78933147
chr5:78933198 G
G
 A
A
 1 a0002c0002t0003g0306
a0002c0002t0003g0306
 1 NA18941.hp2
NA18941.hp2
 intron_variant MODIFIER c.898+22097C>T
c.898+22097C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78933198
chr5:78933213 C
C
 T
T
 244 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(241): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0181
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0022t0006g0359
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0006g0014
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
 245 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(242): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+22082G>A
c.898+22082G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78933213
chr5:78933288 A
A
 G
G
 1 a0001c0001t0002g0209
a0001c0001t0002g0209
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.898+22007T>C
c.898+22007T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78933288
chr5:78933326 A
A
 T
T
 1 a0001c0001t0047g0043
a0001c0001t0047g0043
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.898+21969T>A
c.898+21969T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78933326
chr5:78933367 G
G
 A
A
 3 a0001c0001t0007g0115
a0001c0001t0031g0324
a0002c0002t0002g0179
a0001c0001t0007g0115
a0001c0001t0031g0324
a0002c0002t0002g0179
 3 HG00544.hp1
HG02809.hp1
HG03130.hp2
HG00544.hp1
HG02809.hp1
HG03130.hp2
 intron_variant MODIFIER c.898+21928C>T
c.898+21928C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78933367
chr5:78933501 T
T
 G
G
 2 a0002c0002t0003g0319
a0002c0002t0005g0318
a0002c0002t0003g0319
a0002c0002t0005g0318
 2 HG00621.hp1
NA18948.hp1
HG00621.hp1
NA18948.hp1
 intron_variant MODIFIER c.898+21794A>C
c.898+21794A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78933501
chr5:78933651 C
C
 A
A
 4 a0001c0001t0004g0278
a0001c0003t0006g0103
a0001c0015t0027g0102
others(1): Show 
a0001c0001t0004g0278
a0001c0003t0006g0103
a0001c0015t0027g0102
a0005c0016t0002g0237
 4 HG02055.hp2
HG02622.hp2
HG02809.hp2
others(1): Show 
HG02055.hp2
HG02622.hp2
HG02809.hp2
HG02922.hp2
 intron_variant MODIFIER c.898+21644G>T
c.898+21644G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78933651
chr5:78933693 T
T
 TTCAA
TTCAA
 6 a0001c0001t0004g0278
a0001c0003t0006g0103
a0001c0003t0073g0099
others(3): Show 
a0001c0001t0004g0278
a0001c0003t0006g0103
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0015t0027g0102
a0005c0016t0002g0237
 6 HG02055.hp2
HG02615.hp2
HG02622.hp2
others(3): Show 
HG02055.hp2
HG02615.hp2
HG02622.hp2
HG02809.hp2
HG02922.hp2
HG03540.hp1
 intron_variant MODIFIER c.898+21598_898+2160
others(8): Show 
c.898+21598_898+21601dupTTGA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78933693
chr5:78933840 A
A
 C
C
 1 a0001c0001t0003g0167
a0001c0001t0003g0167
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.898+21455T>G
c.898+21455T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78933840
chr5:78934187 C
C
 T
T
 1 a0001c0001t0051g0239
a0001c0001t0051g0239
 1 NA18969.hp2
NA18969.hp2
 intron_variant MODIFIER c.898+21108G>A
c.898+21108G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78934187
chr5:78934388 C
C
 T
T
 11 a0001c0001t0002g0092
a0001c0003t0002g0349
a0001c0003t0002g0351
others(8): Show 
a0001c0001t0002g0092
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0069g0273
 11 HG00733.hp1
HG01168.hp2
HG01891.hp1
others(8): Show 
HG00733.hp1
HG01168.hp2
HG01891.hp1
HG02572.hp1
HG02647.hp1
HG02895.hp2
HG02897.hp1
HG03139.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
 intron_variant MODIFIER c.898+20907G>A
c.898+20907G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78934388
chr5:78934427 T
T
 C
C
 1 a0001c0001t0004g0278
a0001c0001t0004g0278
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.898+20868A>G
c.898+20868A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78934427
chr5:78934512 T
T
 C
C
 2 a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0003t0073g0099
a0001c0005t0036g0275
 2 HG02615.hp2
HG03540.hp1
HG02615.hp2
HG03540.hp1
 intron_variant MODIFIER c.898+20783A>G
c.898+20783A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78934512
chr5:78934528 G
G
 T
T
 1 a0002c0002t0025g0213
a0002c0002t0025g0213
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.898+20767C>A
c.898+20767C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78934528
chr5:78934645 G
G
 A
A
 3 a0001c0001t0002g0092
a0001c0003t0012g0177
a0001c0003t0022g0178
a0001c0001t0002g0092
a0001c0003t0012g0177
a0001c0003t0022g0178
 3 HG03139.hp2
HG03225.hp2
HG03471.hp2
HG03139.hp2
HG03225.hp2
HG03471.hp2
 intron_variant MODIFIER c.898+20650C>T
c.898+20650C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78934645
chr5:78934651 G
G
 A
A
 5 a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0167
others(2): Show 
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0167
a0001c0001t0008g0036
a0001c0001t0011g0033
 5 HG00609.hp1
NA18954.hp2
NA18957.hp2
others(2): Show 
HG00609.hp1
NA18954.hp2
NA18957.hp2
NA18962.hp2
NA18970.hp2
 intron_variant MODIFIER c.898+20644C>T
c.898+20644C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78934651
chr5:78934902 A
A
 C
C
 6 a0001c0003t0002g0270
a0001c0003t0008g0116
a0001c0003t0031g0119
others(3): Show 
a0001c0003t0002g0270
a0001c0003t0008g0116
a0001c0003t0031g0119
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
 6 HG01243.hp2
HG02615.hp1
HG02717.hp2
others(3): Show 
HG01243.hp2
HG02615.hp1
HG02717.hp2
HG02965.hp2
HG03209.hp1
HG03486.hp1
 intron_variant MODIFIER c.898+20393T>G
c.898+20393T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78934902
chr5:78934933 T
T
 G
G
 2 a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0003t0073g0099
a0001c0005t0036g0275
 2 HG02615.hp2
HG03540.hp1
HG02615.hp2
HG03540.hp1
 intron_variant MODIFIER c.898+20362A>C
c.898+20362A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78934933
chr5:78934990 C
C
 A
A
 11 a0001c0001t0002g0092
a0001c0003t0002g0349
a0001c0003t0002g0351
others(8): Show 
a0001c0001t0002g0092
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0069g0273
 11 HG00733.hp1
HG01168.hp2
HG01891.hp1
others(8): Show 
HG00733.hp1
HG01168.hp2
HG01891.hp1
HG02572.hp1
HG02647.hp1
HG02895.hp2
HG02897.hp1
HG03139.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
 intron_variant MODIFIER c.898+20305G>T
c.898+20305G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78934990
chr5:78935026 T
T
 A
A
 1 a0001c0001t0001g0035
a0001c0001t0001g0035
 1 NA18957.hp1
NA18957.hp1
 intron_variant MODIFIER c.898+20269A>T
c.898+20269A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78935026
chr5:78935262 A
A
 G
G
 3 a0001c0001t0002g0092
a0001c0003t0012g0177
a0001c0003t0022g0178
a0001c0001t0002g0092
a0001c0003t0012g0177
a0001c0003t0022g0178
 3 HG03139.hp2
HG03225.hp2
HG03471.hp2
HG03139.hp2
HG03225.hp2
HG03471.hp2
 intron_variant MODIFIER c.898+20033T>C
c.898+20033T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78935262
chr5:78935400 A
A
 G
G
 3 a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0001t0044g0091
 3 HG00741.hp1
HG01243.hp1
NA19030.hp1
HG00741.hp1
HG01243.hp1
NA19030.hp1
 intron_variant MODIFIER c.898+19895T>C
c.898+19895T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78935400
chr5:78935408 T
T
 C
C
 4 a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0007t0004g0100
others(1): Show 
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0007t0004g0100
a0001c0007t0068g0111
 4 HG02976.hp2
HG03041.hp2
HG03516.hp2
others(1): Show 
HG02976.hp2
HG03041.hp2
HG03516.hp2
HG03540.hp2
 intron_variant MODIFIER c.898+19887A>G
c.898+19887A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78935408
chr5:78935473 G
G
 A
A
 11 a0001c0001t0002g0092
a0001c0003t0002g0349
a0001c0003t0002g0351
others(8): Show 
a0001c0001t0002g0092
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0069g0273
 11 HG00733.hp1
HG01168.hp2
HG01891.hp1
others(8): Show 
HG00733.hp1
HG01168.hp2
HG01891.hp1
HG02572.hp1
HG02647.hp1
HG02895.hp2
HG02897.hp1
HG03139.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
 intron_variant MODIFIER c.898+19822C>T
c.898+19822C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78935473
chr5:78935600 T
T
 C
C
 2 a0002c0002t0003g0025
a0002c0002t0045g0302
a0002c0002t0003g0025
a0002c0002t0045g0302
 2 HG02129.hp1
NA18946.hp1
HG02129.hp1
NA18946.hp1
 intron_variant MODIFIER c.898+19695A>G
c.898+19695A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78935600
chr5:78935745 G
G
 A
A
 1 a0001c0001t0004g0009
a0001c0001t0004g0009
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.898+19550C>T
c.898+19550C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78935745
chr5:78935773 G
G
 A
A
 11 a0001c0001t0002g0092
a0001c0003t0002g0349
a0001c0003t0002g0351
others(8): Show 
a0001c0001t0002g0092
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0069g0273
 11 HG00733.hp1
HG01168.hp2
HG01891.hp1
others(8): Show 
HG00733.hp1
HG01168.hp2
HG01891.hp1
HG02572.hp1
HG02647.hp1
HG02895.hp2
HG02897.hp1
HG03139.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
 intron_variant MODIFIER c.898+19522C>T
c.898+19522C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78935773
chr5:78935836 T
T
 C
C
 2 a0001c0001t0002g0209
a0001c0001t0005g0208
a0001c0001t0002g0209
a0001c0001t0005g0208
 2 HG02132.hp1
HG02155.hp1
HG02132.hp1
HG02155.hp1
 intron_variant MODIFIER c.898+19459A>G
c.898+19459A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78935836
chr5:78935922 C
C
 G
G
 5 a0001c0001t0002g0005
a0001c0003t0012g0166
a0002c0002t0006g0014
others(2): Show 
a0001c0001t0002g0005
a0001c0003t0012g0166
a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
 5 HG01109.hp2
HG01496.hp1
HG02896.hp1
others(2): Show 
HG01109.hp2
HG01496.hp1
HG02896.hp1
HG03225.hp1
NA21309.hp1
 intron_variant MODIFIER c.898+19373G>C
c.898+19373G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78935922
chr5:78935927 T
T
 TCCTCC
TCCTCC
 13 a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0349
others(10): Show 
a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0069g0273
 13 HG00733.hp1
HG01168.hp2
HG01891.hp1
others(10): Show 
HG00733.hp1
HG01168.hp2
HG01891.hp1
HG02451.hp2
HG02572.hp1
HG02647.hp1
HG02895.hp2
HG02897.hp1
HG03139.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
NA21309.hp2
 intron_variant MODIFIER c.898+19363_898+1936
others(9): Show 
c.898+19363_898+19367dupGGAGG
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78935927
chr5:78935928 CCTCCA
CCTCCA
 C
C
 54 a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0002g0104
others(51): Show 
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0002g0104
a0001c0001t0002g0218
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0064
a0001c0001t0008g0131
a0001c0001t0011g0046
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0003g0050
a0001c0003t0005g0060
a0001c0003t0025g0341
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0011g0007
a0004c0006t0016g0163
 54 HG00323.hp1
HG00408.hp1
HG00423.hp1
others(51): Show 
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp2
HG01167.hp2
HG01261.hp1
HG01515.hp1
HG01517.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG03579.hp2
HG03834.hp1
HG03942.hp2
HG04184.hp1
NA18612.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp1
NA18972.hp1
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp1
NA18992.hp1
NA18994.hp2
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19010.hp1
NA19062.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp2
NA20752.hp1
 intron_variant MODIFIER c.898+19362_898+1936
others(9): Show 
c.898+19362_898+19366delTGGAG
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78935928
chr5:78935933 A
A
 C
C
 290 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(287): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0334
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 291 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(288): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18963.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19065.hp2
NA19068.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.898+19362T>G
c.898+19362T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78935933
chr5:78935937 C
C
 T
T
 3 a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
 3 HG01496.hp1
HG02896.hp1
HG03225.hp1
HG01496.hp1
HG02896.hp1
HG03225.hp1
 intron_variant MODIFIER c.898+19358G>A
c.898+19358G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78935937
chr5:78935999 TTTTC
TTTTC
 T
T
 271 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(268): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0039
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0141
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0342
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0007g0132
a0001c0003t0015g0346
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0034g0071
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0007t0004g0100
a0001c0007t0077g0070
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
a0007c0012t0032g0180
 272 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(269): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.898+19292_898+1929
others(8): Show 
c.898+19292_898+19295delGAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78935999
chr5:78936013 TTCTC
TTCTC
 T
T
 5 a0001c0001t0002g0005
a0001c0001t0006g0219
a0001c0003t0006g0103
others(2): Show 
a0001c0001t0002g0005
a0001c0001t0006g0219
a0001c0003t0006g0103
a0001c0003t0018g0057
a0001c0015t0027g0102
 5 HG02055.hp2
HG02922.hp2
HG03098.hp2
others(2): Show 
HG02055.hp2
HG02922.hp2
HG03098.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.898+19278_898+1928
others(8): Show 
c.898+19278_898+19281delGAGA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78936013
chr5:78936017 C
C
 T
T
 3 a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
 3 HG01496.hp1
HG02896.hp1
HG03225.hp1
HG01496.hp1
HG02896.hp1
HG03225.hp1
 intron_variant MODIFIER c.898+19278G>A
c.898+19278G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78936017
chr5:78936034 C
C
 A
A
 3 a0001c0003t0006g0267
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0003t0006g0267
a0001c0009t0016g0271
a0001c0009t0016g0272
 3 HG01891.hp2
HG02145.hp1
NA19240.hp1
HG01891.hp2
HG02145.hp1
NA19240.hp1
 intron_variant MODIFIER c.898+19261G>T
c.898+19261G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78936034
chr5:78936126 TC
TC
 T
T
 4 a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
others(1): Show 
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0012g0350
 4 HG00733.hp1
HG01168.hp2
HG02572.hp1
others(1): Show 
HG00733.hp1
HG01168.hp2
HG02572.hp1
HG02647.hp1
 intron_variant MODIFIER c.898+19168delG
c.898+19168delG
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78936126
chr5:78936129 C
C
 CT
CT
 97 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(94): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0002g0005
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0235
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0002g0262
a0001c0003t0006g0254
a0001c0003t0012g0166
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0034g0071
a0001c0003t0048g0266
a0001c0005t0074g0073
a0001c0007t0077g0070
a0001c0017t0002g0088
a0002c0002t0003g0336
a0002c0002t0005g0241
a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0013t0017g0015
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 97 HG00140.hp1
HG00280.hp1
HG00408.hp2
others(94): Show 
HG00140.hp1
HG00280.hp1
HG00408.hp2
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01175.hp1
HG01175.hp2
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp2
HG02109.hp1
HG02135.hp2
HG02280.hp2
HG02451.hp2
HG02572.hp2
HG02602.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG03017.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03834.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18906.hp1
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18946.hp2
NA18950.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18957.hp2
NA18959.hp1
NA18961.hp1
NA18962.hp2
NA18968.hp2
NA18970.hp2
NA18978.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA19001.hp2
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19077.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+19165dupA
c.898+19165dupA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78936129
chr5:78936129 C
C
 CTT
CTT
 25 a0001c0001t0002g0092
a0001c0001t0005g0076
a0001c0001t0005g0077
others(22): Show 
a0001c0001t0002g0092
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0007g0250
a0001c0001t0021g0173
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0352
a0001c0003t0012g0089
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0007t0036g0259
 25 HG00741.hp1
HG01069.hp2
HG01071.hp2
others(22): Show 
HG00741.hp1
HG01069.hp2
HG01071.hp2
HG01243.hp1
HG01884.hp1
HG01891.hp1
HG02258.hp2
HG02559.hp2
HG02622.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03471.hp2
HG03516.hp1
NA18943.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.898+19164_898+1916
others(6): Show 
c.898+19164_898+19165dupAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78936129
chr5:78936129 C
C
 CTTT
CTTT
 8 a0001c0001t0005g0075
a0001c0003t0002g0270
a0001c0003t0008g0116
others(5): Show 
a0001c0001t0005g0075
a0001c0003t0002g0270
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0031g0119
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
 8 HG00738.hp1
HG01243.hp2
HG02615.hp1
others(5): Show 
HG00738.hp1
HG01243.hp2
HG02615.hp1
HG02717.hp2
HG02965.hp2
HG03209.hp1
HG03225.hp2
HG03486.hp1
 intron_variant MODIFIER c.898+19163_898+1916
others(7): Show 
c.898+19163_898+19165dupAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78936129
chr5:78936129 C
C
 T
T
 4 a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
others(1): Show 
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0012g0350
 4 HG00733.hp1
HG01168.hp2
HG02572.hp1
others(1): Show 
HG00733.hp1
HG01168.hp2
HG02572.hp1
HG02647.hp1
 intron_variant MODIFIER c.898+19166G>A
c.898+19166G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78936129
chr5:78936129 CT
CT
 C
C
 68 a0001c0001t0001g0245
a0001c0001t0002g0261
a0001c0003t0001g0326
others(65): Show 
a0001c0001t0001g0245
a0001c0001t0002g0261
a0001c0003t0001g0326
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0006g0212
a0001c0003t0006g0267
a0001c0003t0041g0155
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0004c0006t0016g0163
 68 HG00099.hp1
HG00140.hp2
HG00323.hp1
others(65): Show 
HG00099.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02293.hp2
HG02698.hp1
HG02717.hp1
HG03041.hp1
HG03130.hp1
HG03490.hp1
HG03669.hp2
HG03710.hp1
HG04115.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18960.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.898+19165delA
c.898+19165delA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78936129
chr5:78936136 T
T
 C
C
 1 a0001c0001t0001g0265
a0001c0001t0001g0265
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.898+19159A>G
c.898+19159A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78936136
chr5:78936186 G
G
 A
A
 3 a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0007t0036g0259
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0007t0036g0259
 3 HG02818.hp2
HG02922.hp1
HG03195.hp1
HG02818.hp2
HG02922.hp1
HG03195.hp1
 intron_variant MODIFIER c.898+19109C>T
c.898+19109C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78936186
chr5:78936354 C
C
 T
T
 14 a0001c0001t0001g0087
a0001c0001t0002g0200
a0001c0001t0003g0064
others(11): Show 
a0001c0001t0001g0087
a0001c0001t0002g0200
a0001c0001t0003g0064
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0327
a0001c0001t0004g0330
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0010g0244
a0001c0001t0013g0329
a0001c0001t0014g0199
a0001c0001t0020g0028
a0002c0002t0057g0284
 14 HG00408.hp2
HG00438.hp2
HG00621.hp2
others(11): Show 
HG00408.hp2
HG00438.hp2
HG00621.hp2
HG01074.hp2
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG02071.hp2
HG03654.hp2
NA18953.hp2
NA18968.hp2
NA18994.hp1
NA19009.hp1
NA19063.hp2
 intron_variant MODIFIER c.898+18941G>A
c.898+18941G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78936354
chr5:78936481 GA
GA
 G
G
 259 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(256): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0338
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0058g0045
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0022t0006g0359
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0057g0284
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
 260 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(257): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+18813delT
c.898+18813delT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78936481
chr5:78936509 G
G
 A
A
 4 a0001c0003t0008g0116
a0001c0003t0031g0119
a0001c0003t0070g0251
others(1): Show 
a0001c0003t0008g0116
a0001c0003t0031g0119
a0001c0003t0070g0251
a0001c0008t0008g0118
 4 HG02615.hp1
HG02965.hp2
HG03209.hp1
others(1): Show 
HG02615.hp1
HG02965.hp2
HG03209.hp1
HG03486.hp1
 intron_variant MODIFIER c.898+18786C>T
c.898+18786C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78936509
chr5:78936584 T
T
 C
C
 34 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0201
others(31): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0201
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0276
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0014g0220
a0001c0003t0035g0357
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0032g0117
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0022t0006g0359
a0002c0002t0001g0345
a0003c0004t0003g0095
a0005c0016t0002g0237
 34 HG02055.hp1
HG02055.hp2
HG02056.hp2
others(31): Show 
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02135.hp1
HG02155.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02615.hp2
HG02622.hp2
HG02683.hp2
HG02723.hp1
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG03017.hp2
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG04115.hp2
NA18906.hp2
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA19011.hp2
NA19043.hp2
NA19077.hp2
NA19240.hp2
 intron_variant MODIFIER c.898+18711A>G
c.898+18711A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78936584
chr5:78936603 C
C
 G
G
 3 a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
 3 HG01496.hp1
HG02896.hp1
HG03225.hp1
HG01496.hp1
HG02896.hp1
HG03225.hp1
 intron_variant MODIFIER c.898+18692G>C
c.898+18692G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78936603
chr5:78936630 G
G
 A
A
 118 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(115): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0235
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0089
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0034g0071
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0005t0074g0073
a0001c0007t0036g0259
a0001c0007t0077g0070
a0001c0017t0002g0088
a0002c0002t0003g0336
a0002c0002t0057g0284
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 118 HG00140.hp1
HG00280.hp1
HG00408.hp2
others(115): Show 
HG00140.hp1
HG00280.hp1
HG00408.hp2
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01993.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02280.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG03017.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03834.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18950.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18961.hp1
NA18962.hp2
NA18968.hp2
NA18970.hp2
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA19001.hp2
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19077.hp1
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+18665C>T
c.898+18665C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78936630
chr5:78936936 G
G
 A
A
 18 a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0270
others(15): Show 
a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
 18 HG00733.hp1
HG01168.hp2
HG01243.hp2
others(15): Show 
HG00733.hp1
HG01168.hp2
HG01243.hp2
HG01891.hp1
HG02451.hp2
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
 intron_variant MODIFIER c.898+18359C>T
c.898+18359C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78936936
chr5:78937027 C
C
 T
T
 2 a0001c0001t0003g0021
a0002c0002t0002g0314
a0001c0001t0003g0021
a0002c0002t0002g0314
 2 HG02040.hp1
NA18972.hp1
HG02040.hp1
NA18972.hp1
 intron_variant MODIFIER c.898+18268G>A
c.898+18268G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78937027
chr5:78937254 G
G
 A
A
 28 a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
others(25): Show 
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0209
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0007g0333
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0320
a0001c0003t0002g0342
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0015g0346
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0021t0003g0358
a0002c0002t0064g0285
a0007c0012t0032g0180
 28 HG00544.hp2
HG01069.hp1
HG01074.hp1
others(25): Show 
HG00544.hp2
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01261.hp2
HG01346.hp1
HG01943.hp2
HG01981.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp1
HG02738.hp1
HG03490.hp1
HG03491.hp1
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19074.hp1
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.898+18041C>T
c.898+18041C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78937254
chr5:78937270 A
A
 ACATATAT
others(32): Show 
ACATATATATGTAAGATATATATATGTAAGATATATATAT
 2 a0001c0018t0002g0016
a0002c0002t0005g0318
a0001c0018t0002g0016
a0002c0002t0005g0318
 2 HG00621.hp1
HG01884.hp2
HG00621.hp1
HG01884.hp2
 intron_variant MODIFIER c.898+17986_898+1802
others(43): Show 
c.898+17986_898+18024dupATATATATATCTTACATATATATATC
TTACATATATATG
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78937270
chr5:78937271 C
C
 CAT
CAT
 3 a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0007t0068g0111
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0007t0068g0111
 3 HG02976.hp2
HG03041.hp2
HG03516.hp2
HG02976.hp2
HG03041.hp2
HG03516.hp2
 intron_variant MODIFIER c.898+18022_898+1802
others(6): Show 
c.898+18022_898+18023dupAT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78937271
chr5:78937271 C
C
 T
T
 3 a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
 3 HG01496.hp1
HG02896.hp1
HG03225.hp1
HG01496.hp1
HG02896.hp1
HG03225.hp1
 intron_variant MODIFIER c.898+18024G>A
c.898+18024G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78937271
chr5:78937271 CATATATA
others(8): Show 
CATATATATGTAAGAT
 C
C
 1 a0001c0001t0004g0278
a0001c0001t0004g0278
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.898+18009_898+1802
others(19): Show 
c.898+18009_898+18023delATCTTACATATATAT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78937271
chr5:78937310 CATATATA
others(8): Show 
CATATATATGTAAGAT
 C
C
 2 a0002c0002t0005g0042
a0002c0002t0013g0240
a0002c0002t0005g0042
a0002c0002t0013g0240
 2 HG01257.hp1
NA18989.hp2
HG01257.hp1
NA18989.hp2
 intron_variant MODIFIER c.898+17970_898+1798
others(19): Show 
c.898+17970_898+17984delATCTTACATATATAT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78937310
chr5:78937318 T
T
 C
C
 31 a0001c0001t0002g0039
a0001c0001t0003g0140
a0001c0001t0004g0083
others(28): Show 
a0001c0001t0002g0039
a0001c0001t0003g0140
a0001c0001t0004g0083
a0001c0001t0005g0038
a0001c0001t0010g0141
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
 32 HG00099.hp2
HG00280.hp2
HG00423.hp1
others(29): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01952.hp2
HG01993.hp2
HG02129.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02735.hp2
HG02886.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03927.hp2
NA19043.hp1
NA19088.hp1
 intron_variant MODIFIER c.898+17977A>G
c.898+17977A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78937318
chr5:78937323 GAT
GAT
 G
G
 156 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(153): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0002g0005
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0276
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0076g0268
a0001c0007t0036g0259
a0001c0007t0077g0070
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0003g0336
a0002c0002t0057g0284
a0003c0004t0003g0095
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
 156 HG00140.hp1
HG00280.hp1
HG00408.hp2
others(153): Show 
HG00140.hp1
HG00280.hp1
HG00408.hp2
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01993.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02080.hp2
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp2
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp2
NA18975.hp2
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18992.hp2
NA18993.hp1
NA18995.hp1
NA19001.hp2
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19077.hp1
NA19077.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+17970_898+1797
others(6): Show 
c.898+17970_898+17971delAT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78937323
chr5:78937325 T
T
 TATATATG
others(28): Show 
TATATATGTAAGATATATATATCATATATACGTAAG
 4 a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0004g0122
others(1): Show 
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0004g0122
a0003c0004t0012g0123
 5 HG01257.hp2
HG01258.hp2
HG01433.hp2
others(2): Show 
HG01257.hp2
HG01258.hp2
HG01433.hp2
HG01952.hp2
HG02293.hp1
 intron_variant MODIFIER c.898+17969_898+1797
others(39): Show 
c.898+17969_898+17970insCTTACGTATATATGATATATATATCT
TACATATAT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78937325
chr5:78937325 T
T
 TATATATG
others(28): Show 
TATATATGTAAGATATATATATCATATATATGTAAG
 82 a0001c0001t0002g0039
a0001c0001t0003g0019
a0001c0001t0003g0021
others(79): Show 
a0001c0001t0002g0039
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0140
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0004g0083
a0001c0001t0005g0038
a0001c0001t0006g0356
a0001c0001t0008g0131
a0001c0001t0010g0141
a0001c0001t0011g0046
a0001c0001t0018g0130
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0003t0002g0253
a0001c0003t0009g0281
a0001c0003t0058g0045
a0001c0005t0075g0112
a0001c0007t0068g0111
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
 82 HG00099.hp2
HG00280.hp2
HG00323.hp1
others(79): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01255.hp2
HG01358.hp2
HG01361.hp1
HG01515.hp1
HG01517.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02145.hp2
HG02280.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02647.hp2
HG02683.hp1
HG02735.hp2
HG02886.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04184.hp1
NA18612.hp2
NA18747.hp1
NA18947.hp2
NA18949.hp1
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18972.hp1
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19043.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp1
 intron_variant MODIFIER c.898+17969_898+1797
others(39): Show 
c.898+17969_898+17970insCTTACATATATATGATATATATATCT
TACATATAT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78937325
chr5:78937325 T
T
 TATATATG
others(65): Show 
TATATATGTAAGATATATATATCATATATATGTAAGATATATATGTAAGA
TATATATATCATATATATGTAAG
 3 a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
 3 HG01496.hp1
HG02896.hp1
HG03225.hp1
HG01496.hp1
HG02896.hp1
HG03225.hp1
 intron_variant MODIFIER c.898+17969_898+1797
others(76): Show 
c.898+17969_898+17970insCTTACATATATATGATATATATATCT
TACATATATATCTTACATATATATGATATATATATCTTACATATAT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78937325
chr5:78937349 C
C
 CATATATA
others(6): Show 
CATATATATGTAAG
 1 a0001c0001t0001g0315
a0001c0001t0001g0315
 1 NA18950.hp2
NA18950.hp2
 intron_variant MODIFIER c.898+17933_898+1794
others(17): Show 
c.898+17933_898+17945dupCTTACATATATAT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78937349
chr5:78937353 T
T
 C
C
 3 a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
 3 HG01496.hp1
HG02896.hp1
HG03225.hp1
HG01496.hp1
HG02896.hp1
HG03225.hp1
 intron_variant MODIFIER c.898+17942A>G
c.898+17942A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78937353
chr5:78937369 ATATG
ATATG
 A
A
 116 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(113): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0235
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0089
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0034g0071
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0005t0074g0073
a0001c0007t0036g0259
a0001c0007t0077g0070
a0001c0017t0002g0088
a0002c0002t0003g0336
a0002c0002t0057g0284
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 116 HG00140.hp1
HG00280.hp1
HG00408.hp2
others(113): Show 
HG00140.hp1
HG00280.hp1
HG00408.hp2
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01993.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02280.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG03017.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03834.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18950.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18961.hp1
NA18962.hp2
NA18970.hp2
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18992.hp2
NA18993.hp1
NA18995.hp1
NA19001.hp2
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19077.hp1
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+17922_898+1792
others(8): Show 
c.898+17922_898+17925delCATA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78937369
chr5:78937427 CATATATA
others(32): Show 
CATATATATGATATATATATCTTATATATATAATGAATAT
 C
C
 1 a0001c0003t0012g0089
a0001c0003t0012g0089
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.898+17829_898+1786
others(43): Show 
c.898+17829_898+17867delATATTCATTATATATATAAGATATAT
ATATCATATATAT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78937427
chr5:78937435 T
T
 TGTAAGAT
others(36): Show 
TGTAAGATATATATATGTAAGATATATATATCATATATATGTAA
 18 a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0270
others(15): Show 
a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
 18 HG00733.hp1
HG01168.hp2
HG01243.hp2
others(15): Show 
HG00733.hp1
HG01168.hp2
HG01243.hp2
HG01891.hp1
HG02451.hp2
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
 intron_variant MODIFIER c.898+17859_898+1786
others(47): Show 
c.898+17859_898+17860insTTACATATATATGATATATATATCTT
ACATATATATATCTTAC
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78937435
chr5:78937585 C
C
 T
T
 1 a0003c0004t0002g0128
a0003c0004t0002g0128
 1 HG01361.hp1
HG01361.hp1
 intron_variant MODIFIER c.898+17710G>A
c.898+17710G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78937585
chr5:78937611 C
C
 T
T
 18 a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0270
others(15): Show 
a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
 18 HG00733.hp1
HG01168.hp2
HG01243.hp2
others(15): Show 
HG00733.hp1
HG01168.hp2
HG01243.hp2
HG01891.hp1
HG02451.hp2
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
 intron_variant MODIFIER c.898+17684G>A
c.898+17684G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78937611
chr5:78937626 G
G
 GA
GA
 28 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0201
others(25): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0201
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0276
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0014g0220
a0001c0003t0035g0357
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0022t0006g0359
a0002c0002t0001g0345
a0003c0004t0003g0095
 28 HG02055.hp1
HG02056.hp2
HG02135.hp1
others(25): Show 
HG02055.hp1
HG02056.hp2
HG02135.hp1
HG02155.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02683.hp2
HG02723.hp1
HG02965.hp1
HG03017.hp2
HG03491.hp2
HG03492.hp2
HG04115.hp2
NA18906.hp2
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA19011.hp2
NA19043.hp2
NA19077.hp2
NA19240.hp2
 intron_variant MODIFIER c.898+17668dupT
c.898+17668dupT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78937626
chr5:78937681 A
A
 G
G
 292 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(289): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0006g0014
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0064g0285
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 293 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(290): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+17614T>C
c.898+17614T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78937681
chr5:78937731 C
C
 T
T
 98 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(95): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0235
a0001c0001t0007g0181
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0006g0254
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0034g0071
a0001c0003t0048g0266
a0001c0005t0074g0073
a0001c0007t0077g0070
a0001c0017t0002g0088
a0002c0002t0003g0336
a0002c0002t0057g0284
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 98 HG00140.hp1
HG00280.hp1
HG00408.hp2
others(95): Show 
HG00140.hp1
HG00280.hp1
HG00408.hp2
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp2
HG00738.hp1
HG01069.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01175.hp1
HG01175.hp2
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01943.hp1
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01993.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp2
HG02109.hp1
HG02135.hp2
HG02280.hp2
HG02572.hp2
HG02602.hp2
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03834.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18950.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18961.hp1
NA18962.hp2
NA18970.hp2
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18992.hp2
NA18993.hp1
NA18995.hp1
NA19001.hp2
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19077.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+17564G>A
c.898+17564G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78937731
chr5:78937823 C
C
 T
T
 1 a0001c0001t0003g0064
a0001c0001t0003g0064
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.898+17472G>A
c.898+17472G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78937823
chr5:78937889 C
C
 T
T
 293 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(290): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0006g0014
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0064g0285
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 294 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(291): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+17406G>A
c.898+17406G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78937889
chr5:78937913 G
G
 C
C
 1 a0001c0001t0002g0261
a0001c0001t0002g0261
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.898+17382C>G
c.898+17382C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78937913
chr5:78937925 T
T
 C
C
 34 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0201
others(31): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0201
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0276
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0014g0220
a0001c0003t0035g0357
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0032g0117
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0022t0006g0359
a0002c0002t0001g0345
a0003c0004t0003g0095
a0005c0016t0002g0237
 34 HG02055.hp1
HG02055.hp2
HG02056.hp2
others(31): Show 
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02135.hp1
HG02155.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02615.hp2
HG02622.hp2
HG02683.hp2
HG02723.hp1
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG03017.hp2
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG04115.hp2
NA18906.hp2
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA19011.hp2
NA19043.hp2
NA19077.hp2
NA19240.hp2
 intron_variant MODIFIER c.898+17370A>G
c.898+17370A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78937925
chr5:78938009 T
T
 C
C
 98 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(95): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0235
a0001c0001t0007g0181
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0006g0254
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0034g0071
a0001c0003t0048g0266
a0001c0005t0074g0073
a0001c0007t0077g0070
a0001c0017t0002g0088
a0002c0002t0003g0336
a0002c0002t0057g0284
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 98 HG00140.hp1
HG00280.hp1
HG00408.hp2
others(95): Show 
HG00140.hp1
HG00280.hp1
HG00408.hp2
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp2
HG00738.hp1
HG01069.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01175.hp1
HG01175.hp2
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01943.hp1
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01993.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp2
HG02109.hp1
HG02135.hp2
HG02280.hp2
HG02572.hp2
HG02602.hp2
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03834.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18950.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18961.hp1
NA18962.hp2
NA18970.hp2
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18992.hp2
NA18993.hp1
NA18995.hp1
NA19001.hp2
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19077.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+17286A>G
c.898+17286A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78938009
chr5:78938110 C
C
 T
T
 1 a0001c0003t0002g0262
a0001c0003t0002g0262
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.898+17185G>A
c.898+17185G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78938110
chr5:78938233 C
C
 T
T
 2 a0001c0001t0014g0199
a0002c0002t0057g0284
a0001c0001t0014g0199
a0002c0002t0057g0284
 2 HG01074.hp2
HG01175.hp2
HG01074.hp2
HG01175.hp2
 intron_variant MODIFIER c.898+17062G>A
c.898+17062G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78938233
chr5:78938237 T
T
 C
C
 2 a0001c0003t0003g0334
a0001c0003t0022g0229
a0001c0003t0003g0334
a0001c0003t0022g0229
 2 NA19063.hp1
NA19085.hp1
NA19063.hp1
NA19085.hp1
 intron_variant MODIFIER c.898+17058A>G
c.898+17058A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78938237
chr5:78938238 C
C
 A
A
 2 a0001c0003t0003g0334
a0001c0003t0022g0229
a0001c0003t0003g0334
a0001c0003t0022g0229
 2 NA19063.hp1
NA19085.hp1
NA19063.hp1
NA19085.hp1
 intron_variant MODIFIER c.898+17057G>T
c.898+17057G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78938238
chr5:78938239 A
A
 G
G
 2 a0001c0003t0003g0334
a0001c0003t0022g0229
a0001c0003t0003g0334
a0001c0003t0022g0229
 2 NA19063.hp1
NA19085.hp1
NA19063.hp1
NA19085.hp1
 intron_variant MODIFIER c.898+17056T>C
c.898+17056T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78938239
chr5:78938298 T
T
 C
C
 1 a0002c0002t0066g0355
a0002c0002t0066g0355
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.898+16997A>G
c.898+16997A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78938298
chr5:78938360 A
A
 G
G
 1 a0002c0002t0005g0318
a0002c0002t0005g0318
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.898+16935T>C
c.898+16935T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78938360
chr5:78938385 G
G
 A
A
 5 a0001c0001t0002g0005
a0001c0001t0004g0009
a0001c0001t0006g0219
others(2): Show 
a0001c0001t0002g0005
a0001c0001t0004g0009
a0001c0001t0006g0219
a0001c0003t0012g0166
a0001c0003t0018g0057
 5 HG01109.hp2
HG03098.hp2
HG03209.hp2
others(2): Show 
HG01109.hp2
HG03098.hp2
HG03209.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.898+16910C>T
c.898+16910C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78938385
chr5:78938418 C
C
 T
T
 229 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(226): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0048g0266
a0001c0003t0058g0045
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0017t0002g0088
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0006g0014
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 230 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(227): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp2
HG02145.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+16877G>A
c.898+16877G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78938418
chr5:78938455 C
C
 T
T
 12 a0001c0001t0001g0087
a0001c0001t0002g0200
a0001c0001t0003g0064
others(9): Show 
a0001c0001t0001g0087
a0001c0001t0002g0200
a0001c0001t0003g0064
a0001c0001t0003g0327
a0001c0001t0004g0330
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0010g0244
a0001c0001t0013g0329
a0001c0001t0014g0199
a0001c0001t0020g0028
a0002c0002t0057g0284
 12 HG00408.hp2
HG00438.hp2
HG00621.hp2
others(9): Show 
HG00408.hp2
HG00438.hp2
HG00621.hp2
HG01074.hp2
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG02071.hp2
HG03654.hp2
NA18953.hp2
NA19009.hp1
NA19063.hp2
 intron_variant MODIFIER c.898+16840G>A
c.898+16840G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78938455
chr5:78938603 T
T
 C
C
 4 a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0003t0009g0281
others(1): Show 
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0003t0009g0281
a0001c0007t0068g0111
 4 HG02040.hp2
HG02976.hp2
HG03041.hp2
others(1): Show 
HG02040.hp2
HG02976.hp2
HG03041.hp2
HG03516.hp2
 intron_variant MODIFIER c.898+16692A>G
c.898+16692A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78938603
chr5:78938693 C
C
 A
A
 11 a0001c0001t0002g0092
a0001c0003t0002g0349
a0001c0003t0002g0351
others(8): Show 
a0001c0001t0002g0092
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0069g0273
 11 HG00733.hp1
HG01168.hp2
HG01891.hp1
others(8): Show 
HG00733.hp1
HG01168.hp2
HG01891.hp1
HG02572.hp1
HG02647.hp1
HG02895.hp2
HG02897.hp1
HG03139.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
 intron_variant MODIFIER c.898+16602G>T
c.898+16602G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78938693
chr5:78938714 C
C
 T
T
 17 a0001c0001t0002g0092
a0001c0003t0002g0270
a0001c0003t0002g0349
others(14): Show 
a0001c0001t0002g0092
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
 17 HG00733.hp1
HG01168.hp2
HG01243.hp2
others(14): Show 
HG00733.hp1
HG01168.hp2
HG01243.hp2
HG01891.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
 intron_variant MODIFIER c.898+16581G>A
c.898+16581G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78938714
chr5:78938779 G
G
 T
T
 18 a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0270
others(15): Show 
a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
 18 HG00733.hp1
HG01168.hp2
HG01243.hp2
others(15): Show 
HG00733.hp1
HG01168.hp2
HG01243.hp2
HG01891.hp1
HG02451.hp2
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
 intron_variant MODIFIER c.898+16516C>A
c.898+16516C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78938779
chr5:78938805 G
G
 A
A
 98 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(95): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0235
a0001c0001t0007g0181
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0006g0254
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0034g0071
a0001c0003t0048g0266
a0001c0005t0074g0073
a0001c0007t0077g0070
a0001c0017t0002g0088
a0002c0002t0003g0336
a0002c0002t0057g0284
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 98 HG00140.hp1
HG00280.hp1
HG00408.hp2
others(95): Show 
HG00140.hp1
HG00280.hp1
HG00408.hp2
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp2
HG00738.hp1
HG01069.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01175.hp1
HG01175.hp2
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01943.hp1
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01993.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp2
HG02109.hp1
HG02135.hp2
HG02280.hp2
HG02572.hp2
HG02602.hp2
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03834.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18950.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18961.hp1
NA18962.hp2
NA18970.hp2
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18992.hp2
NA18993.hp1
NA18995.hp1
NA19001.hp2
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19077.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+16490C>T
c.898+16490C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78938805
chr5:78938967 T
T
 C
C
 1 a0001c0007t0004g0100
a0001c0007t0004g0100
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.898+16328A>G
c.898+16328A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78938967
chr5:78938978 G
G
 C
C
 1 a0001c0001t0002g0092
a0001c0001t0002g0092
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.898+16317C>G
c.898+16317C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78938978
chr5:78939007 T
T
 G
G
 87 a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0003g0019
others(84): Show 
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0140
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0004g0083
a0001c0001t0005g0038
a0001c0001t0006g0356
a0001c0001t0008g0131
a0001c0001t0010g0141
a0001c0001t0011g0046
a0001c0001t0018g0130
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0003t0002g0253
a0001c0003t0009g0281
a0001c0003t0058g0045
a0001c0005t0075g0112
a0001c0007t0068g0111
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
 88 HG00099.hp2
HG00280.hp2
HG00323.hp1
others(85): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01517.hp2
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02647.hp2
HG02683.hp1
HG02735.hp2
HG02886.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04184.hp1
NA18612.hp2
NA18747.hp1
NA18947.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18972.hp1
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19043.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp1
 intron_variant MODIFIER c.898+16288A>C
c.898+16288A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78939007
chr5:78939160 G
G
 A
A
 3 a0001c0003t0002g0354
a0001c0003t0035g0357
a0001c0005t0076g0268
a0001c0003t0002g0354
a0001c0003t0035g0357
a0001c0005t0076g0268
 3 HG02258.hp1
HG02451.hp1
HG02723.hp1
HG02258.hp1
HG02451.hp1
HG02723.hp1
 intron_variant MODIFIER c.898+16135C>T
c.898+16135C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78939160
chr5:78939164 A
A
 G
G
 2 a0001c0001t0001g0245
a0001c0001t0003g0339
a0001c0001t0001g0245
a0001c0001t0003g0339
 2 HG02135.hp1
NA18960.hp2
HG02135.hp1
NA18960.hp2
 intron_variant MODIFIER c.898+16131T>C
c.898+16131T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78939164
chr5:78939282 CT
CT
 C
C
 208 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(205): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0307
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0328
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0048g0266
a0001c0003t0058g0045
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0017t0002g0088
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0006g0014
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 209 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(206): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp2
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19001.hp2
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+16012delA
c.898+16012delA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78939282
chr5:78939282 CTT
CTT
 C
C
 21 a0001c0001t0002g0200
a0001c0001t0003g0327
a0001c0001t0004g0330
others(18): Show 
a0001c0001t0002g0200
a0001c0001t0003g0327
a0001c0001t0004g0330
a0001c0001t0007g0250
a0001c0001t0013g0329
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0089
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0007t0036g0259
a0002c0002t0007g0313
 21 HG00621.hp2
HG00741.hp1
HG01243.hp1
others(18): Show 
HG00621.hp2
HG00741.hp1
HG01243.hp1
HG01884.hp1
HG02071.hp2
HG02258.hp2
HG02559.hp2
HG02622.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG03195.hp1
HG03516.hp1
NA18953.hp2
NA19002.hp1
NA19030.hp1
NA19063.hp2
NA20300.hp1
 intron_variant MODIFIER c.898+16011_898+1601
others(6): Show 
c.898+16011_898+16012delAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78939282
chr5:78939335 G
G
 A
A
 3 a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
 3 HG01496.hp1
HG02896.hp1
HG03225.hp1
HG01496.hp1
HG02896.hp1
HG03225.hp1
 intron_variant MODIFIER c.898+15960C>T
c.898+15960C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78939335
chr5:78939396 G
G
 T
T
 3 a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
 3 HG01496.hp1
HG02896.hp1
HG03225.hp1
HG01496.hp1
HG02896.hp1
HG03225.hp1
 intron_variant MODIFIER c.898+15899C>A
c.898+15899C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78939396
chr5:78939535 T
T
 C
C
 1 a0001c0001t0001g0265
a0001c0001t0001g0265
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.898+15760A>G
c.898+15760A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78939535
chr5:78939558 T
T
 A
A
 18 a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0270
others(15): Show 
a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
 18 HG00733.hp1
HG01168.hp2
HG01243.hp2
others(15): Show 
HG00733.hp1
HG01168.hp2
HG01243.hp2
HG01891.hp1
HG02451.hp2
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
 intron_variant MODIFIER c.898+15737A>T
c.898+15737A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78939558
chr5:78939602 G
G
 T
T
 5 a0001c0001t0002g0005
a0001c0001t0004g0009
a0001c0001t0006g0219
others(2): Show 
a0001c0001t0002g0005
a0001c0001t0004g0009
a0001c0001t0006g0219
a0001c0003t0012g0166
a0001c0003t0018g0057
 5 HG01109.hp2
HG03098.hp2
HG03209.hp2
others(2): Show 
HG01109.hp2
HG03098.hp2
HG03209.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.898+15693C>A
c.898+15693C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78939602
chr5:78939623 T
T
 A
A
 3 a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0007t0068g0111
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0007t0068g0111
 3 HG02976.hp2
HG03041.hp2
HG03516.hp2
HG02976.hp2
HG03041.hp2
HG03516.hp2
 intron_variant MODIFIER c.898+15672A>T
c.898+15672A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78939623
chr5:78939730 C
C
 T
T
 1 a0001c0003t0002g0262
a0001c0003t0002g0262
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.898+15565G>A
c.898+15565G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78939730
chr5:78939925 A
A
 G
G
 2 a0001c0001t0007g0115
a0001c0001t0031g0324
a0001c0001t0007g0115
a0001c0001t0031g0324
 2 HG02809.hp1
HG03130.hp2
HG02809.hp1
HG03130.hp2
 intron_variant MODIFIER c.898+15370T>C
c.898+15370T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78939925
chr5:78939959 C
C
 T
T
 18 a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0270
others(15): Show 
a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
 18 HG00733.hp1
HG01168.hp2
HG01243.hp2
others(15): Show 
HG00733.hp1
HG01168.hp2
HG01243.hp2
HG01891.hp1
HG02451.hp2
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
 intron_variant MODIFIER c.898+15336G>A
c.898+15336G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78939959
chr5:78940000 T
T
 A
A
 3 a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
 3 HG01496.hp1
HG02896.hp1
HG03225.hp1
HG01496.hp1
HG02896.hp1
HG03225.hp1
 intron_variant MODIFIER c.898+15295A>T
c.898+15295A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78940000
chr5:78940067 G
G
 C
C
 4 a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0003t0009g0281
others(1): Show 
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0003t0009g0281
a0001c0007t0068g0111
 4 HG02040.hp2
HG02976.hp2
HG03041.hp2
others(1): Show 
HG02040.hp2
HG02976.hp2
HG03041.hp2
HG03516.hp2
 intron_variant MODIFIER c.898+15228C>G
c.898+15228C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78940067
chr5:78940202 T
T
 C
C
 4 a0001c0001t0004g0278
a0001c0003t0006g0103
a0001c0015t0027g0102
others(1): Show 
a0001c0001t0004g0278
a0001c0003t0006g0103
a0001c0015t0027g0102
a0005c0016t0002g0237
 4 HG02055.hp2
HG02622.hp2
HG02809.hp2
others(1): Show 
HG02055.hp2
HG02622.hp2
HG02809.hp2
HG02922.hp2
 intron_variant MODIFIER c.898+15093A>G
c.898+15093A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78940202
chr5:78940275 CTTTAG
CTTTAG
 C
C
 7 a0001c0001t0002g0201
a0001c0001t0003g0293
a0001c0001t0004g0238
others(4): Show 
a0001c0001t0002g0201
a0001c0001t0003g0293
a0001c0001t0004g0238
a0001c0001t0009g0226
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0051g0239
 7 NA18953.hp1
NA18969.hp2
NA18972.hp2
others(4): Show 
NA18953.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
 intron_variant MODIFIER c.898+15015_898+1501
others(9): Show 
c.898+15015_898+15019delCTAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78940275
chr5:78940302 T
T
 A
A
 1 a0001c0003t0002g0262
a0001c0003t0002g0262
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.898+14993A>T
c.898+14993A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78940302
chr5:78940638 G
G
 A
A
 1 a0001c0007t0036g0259
a0001c0007t0036g0259
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.898+14657C>T
c.898+14657C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78940638
chr5:78940677 A
A
 G
G
 3 a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0007t0068g0111
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0007t0068g0111
 3 HG02976.hp2
HG03041.hp2
HG03516.hp2
HG02976.hp2
HG03041.hp2
HG03516.hp2
 intron_variant MODIFIER c.898+14618T>C
c.898+14618T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78940677
chr5:78940680 C
C
 T
T
 298 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(295): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0006g0014
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0064g0285
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 299 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(296): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+14615G>A
c.898+14615G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78940680
chr5:78940761 A
A
 C
C
 2 a0001c0001t0001g0263
a0001c0001t0010g0264
a0001c0001t0001g0263
a0001c0001t0010g0264
 2 HG03491.hp2
HG03492.hp2
HG03491.hp2
HG03492.hp2
 intron_variant MODIFIER c.898+14534T>G
c.898+14534T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78940761
chr5:78940765 C
C
 T
T
 1 a0001c0003t0001g0326
a0001c0003t0001g0326
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.898+14530G>A
c.898+14530G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78940765
chr5:78940766 G
G
 A
A
 93 a0001c0001t0001g0315
a0001c0001t0002g0005
a0001c0001t0002g0039
others(90): Show 
a0001c0001t0001g0315
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0140
a0001c0001t0004g0009
a0001c0001t0004g0083
a0001c0001t0005g0038
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0008g0131
a0001c0001t0010g0141
a0001c0001t0011g0046
a0001c0001t0018g0130
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0003t0002g0253
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0018g0057
a0001c0003t0058g0045
a0001c0005t0075g0112
a0001c0007t0068g0111
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0006g0014
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
 94 HG00099.hp2
HG00280.hp2
HG00323.hp1
others(91): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01109.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02647.hp2
HG02683.hp1
HG02735.hp2
HG02886.hp2
HG02896.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp2
HG03209.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04184.hp1
NA18612.hp2
NA18747.hp1
NA18947.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18972.hp1
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19043.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.898+14529C>T
c.898+14529C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78940766
chr5:78940882 C
C
 A
A
 2 a0001c0001t0002g0209
a0001c0001t0005g0208
a0001c0001t0002g0209
a0001c0001t0005g0208
 2 HG02132.hp1
HG02155.hp1
HG02132.hp1
HG02155.hp1
 intron_variant MODIFIER c.898+14413G>T
c.898+14413G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78940882
chr5:78940906 C
C
 G
G
 17 a0001c0001t0002g0092
a0001c0003t0002g0270
a0001c0003t0002g0349
others(14): Show 
a0001c0001t0002g0092
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
 17 HG00733.hp1
HG01168.hp2
HG01243.hp2
others(14): Show 
HG00733.hp1
HG01168.hp2
HG01243.hp2
HG01891.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
 intron_variant MODIFIER c.898+14389G>C
c.898+14389G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78940906
chr5:78940998 A
A
 C
C
 17 a0001c0001t0002g0092
a0001c0003t0002g0270
a0001c0003t0002g0349
others(14): Show 
a0001c0001t0002g0092
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
 17 HG00733.hp1
HG01168.hp2
HG01243.hp2
others(14): Show 
HG00733.hp1
HG01168.hp2
HG01243.hp2
HG01891.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
 intron_variant MODIFIER c.898+14297T>G
c.898+14297T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78940998
chr5:78941015 G
G
 T
T
 11 a0001c0001t0002g0092
a0001c0003t0002g0349
a0001c0003t0002g0351
others(8): Show 
a0001c0001t0002g0092
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0069g0273
 11 HG00733.hp1
HG01168.hp2
HG01891.hp1
others(8): Show 
HG00733.hp1
HG01168.hp2
HG01891.hp1
HG02572.hp1
HG02647.hp1
HG02895.hp2
HG02897.hp1
HG03139.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
 intron_variant MODIFIER c.898+14280C>A
c.898+14280C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78941015
chr5:78941125 T
T
 C
C
 96 a0001c0001t0001g0245
a0001c0001t0001g0315
a0001c0001t0002g0039
others(93): Show 
a0001c0001t0001g0245
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0140
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0339
a0001c0001t0004g0083
a0001c0001t0005g0038
a0001c0001t0006g0356
a0001c0001t0007g0250
a0001c0001t0008g0131
a0001c0001t0010g0141
a0001c0001t0011g0046
a0001c0001t0018g0130
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0002g0078
a0001c0003t0002g0253
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0009g0281
a0001c0003t0012g0089
a0001c0003t0058g0045
a0001c0005t0075g0112
a0001c0007t0068g0111
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
 97 HG00099.hp2
HG00280.hp2
HG00323.hp1
others(94): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01243.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01517.hp2
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02647.hp2
HG02683.hp1
HG02723.hp2
HG02735.hp2
HG02886.hp2
HG02896.hp2
HG02897.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04184.hp1
NA18612.hp2
NA18747.hp1
NA18947.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18972.hp1
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19030.hp1
NA19043.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp1
 intron_variant MODIFIER c.898+14170A>G
c.898+14170A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78941125
chr5:78941136 T
T
 C
C
 2 a0001c0001t0001g0245
a0001c0001t0003g0339
a0001c0001t0001g0245
a0001c0001t0003g0339
 2 HG02135.hp1
NA18960.hp2
HG02135.hp1
NA18960.hp2
 intron_variant MODIFIER c.898+14159A>G
c.898+14159A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78941136
chr5:78941212 C
C
 T
T
 1 a0001c0003t0002g0262
a0001c0003t0002g0262
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.898+14083G>A
c.898+14083G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78941212
chr5:78941241 T
T
 C
C
 229 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(226): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0048g0266
a0001c0003t0058g0045
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0017t0002g0088
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0006g0014
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 230 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(227): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp2
HG02145.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+14054A>G
c.898+14054A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78941241
chr5:78941377 A
A
 G
G
 1 a0002c0002t0025g0213
a0002c0002t0025g0213
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.898+13918T>C
c.898+13918T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78941377
chr5:78941383 T
T
 C
C
 356 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(353): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 357 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(354): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.898+13912A>G
c.898+13912A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78941383
chr5:78941390 C
C
 T
T
 1 a0001c0001t0005g0195
a0001c0001t0005g0195
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.898+13905G>A
c.898+13905G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78941390
chr5:78941422 C
C
 T
T
 4 a0001c0001t0004g0278
a0001c0003t0006g0103
a0001c0015t0027g0102
others(1): Show 
a0001c0001t0004g0278
a0001c0003t0006g0103
a0001c0015t0027g0102
a0005c0016t0002g0237
 4 HG02055.hp2
HG02622.hp2
HG02809.hp2
others(1): Show 
HG02055.hp2
HG02622.hp2
HG02809.hp2
HG02922.hp2
 intron_variant MODIFIER c.898+13873G>A
c.898+13873G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78941422
chr5:78941493 G
G
 C
C
 244 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(241): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0276
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0009g0281
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0058g0045
a0001c0003t0061g0252
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0022t0006g0359
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0005g0241
a0002c0002t0006g0014
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
 245 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(242): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+13802C>G
c.898+13802C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78941493
chr5:78941493 G
G
 T
T
 18 a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0270
others(15): Show 
a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
 18 HG00733.hp1
HG01168.hp2
HG01243.hp2
others(15): Show 
HG00733.hp1
HG01168.hp2
HG01243.hp2
HG01891.hp1
HG02451.hp2
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
 intron_variant MODIFIER c.898+13802C>A
c.898+13802C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78941493
chr5:78941582 C
C
 T
T
 1 a0002c0002t0026g0176
a0002c0002t0026g0176
 1 HG01978.hp2
HG01978.hp2
 intron_variant MODIFIER c.898+13713G>A
c.898+13713G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78941582
chr5:78941618 C
C
 G
G
 2 a0001c0003t0006g0274
a0001c0003t0069g0273
a0001c0003t0006g0274
a0001c0003t0069g0273
 2 HG02895.hp2
HG02897.hp1
HG02895.hp2
HG02897.hp1
 intron_variant MODIFIER c.898+13677G>C
c.898+13677G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78941618
chr5:78941893 T
T
 C
C
 1 a0002c0002t0003g0247
a0002c0002t0003g0247
 1 NA19000.hp1
NA19000.hp1
 intron_variant MODIFIER c.898+13402A>G
c.898+13402A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78941893
chr5:78941910 C
C
 A
A
 5 a0001c0001t0002g0005
a0001c0001t0004g0009
a0001c0001t0006g0219
others(2): Show 
a0001c0001t0002g0005
a0001c0001t0004g0009
a0001c0001t0006g0219
a0001c0003t0012g0166
a0001c0003t0018g0057
 5 HG01109.hp2
HG03098.hp2
HG03209.hp2
others(2): Show 
HG01109.hp2
HG03098.hp2
HG03209.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.898+13385G>T
c.898+13385G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78941910
chr5:78941925 T
T
 G
G
 1 a0002c0002t0003g0247
a0002c0002t0003g0247
 1 NA19000.hp1
NA19000.hp1
 intron_variant MODIFIER c.898+13370A>C
c.898+13370A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78941925
chr5:78941969 T
T
 C
C
 1 a0001c0003t0002g0270
a0001c0003t0002g0270
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.898+13326A>G
c.898+13326A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78941969
chr5:78942023 A
A
 G
G
 95 a0001c0001t0001g0315
a0001c0001t0002g0005
a0001c0001t0002g0039
others(92): Show 
a0001c0001t0001g0315
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0140
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0004g0009
a0001c0001t0004g0083
a0001c0001t0005g0038
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0008g0131
a0001c0001t0010g0141
a0001c0001t0011g0046
a0001c0001t0018g0130
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0003t0002g0253
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0018g0057
a0001c0003t0058g0045
a0001c0005t0075g0112
a0001c0007t0068g0111
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0006g0014
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
 96 HG00099.hp2
HG00280.hp2
HG00323.hp1
others(93): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01109.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02647.hp2
HG02683.hp1
HG02735.hp2
HG02886.hp2
HG02896.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp2
HG03209.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04184.hp1
NA18612.hp2
NA18747.hp1
NA18947.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18972.hp1
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19043.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.898+13272T>C
c.898+13272T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78942023
chr5:78942072 A
A
 G
G
 1 a0002c0002t0038g0006
a0002c0002t0038g0006
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.898+13223T>C
c.898+13223T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78942072
chr5:78942101 T
T
 C
C
 1 a0001c0003t0060g0210
a0001c0003t0060g0210
 1 HG00544.hp2
HG00544.hp2
 intron_variant MODIFIER c.898+13194A>G
c.898+13194A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78942101
chr5:78942189 C
C
 T
T
 116 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(113): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0235
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0089
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0034g0071
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0005t0074g0073
a0001c0007t0036g0259
a0001c0007t0077g0070
a0001c0017t0002g0088
a0002c0002t0003g0336
a0002c0002t0057g0284
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 116 HG00140.hp1
HG00280.hp1
HG00408.hp2
others(113): Show 
HG00140.hp1
HG00280.hp1
HG00408.hp2
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01993.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02280.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG03017.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03834.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18950.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18961.hp1
NA18962.hp2
NA18970.hp2
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18992.hp2
NA18993.hp1
NA18995.hp1
NA19001.hp2
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19077.hp1
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+13106G>A
c.898+13106G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78942189
chr5:78942320 G
G
 A
A
 2 a0001c0001t0007g0115
a0001c0001t0031g0324
a0001c0001t0007g0115
a0001c0001t0031g0324
 2 HG02809.hp1
HG03130.hp2
HG02809.hp1
HG03130.hp2
 intron_variant MODIFIER c.898+12975C>T
c.898+12975C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78942320
chr5:78942334 G
G
 A
A
 2 a0001c0001t0001g0289
a0001c0001t0040g0288
a0001c0001t0001g0289
a0001c0001t0040g0288
 2 HG02738.hp2
HG03654.hp1
HG02738.hp2
HG03654.hp1
 intron_variant MODIFIER c.898+12961C>T
c.898+12961C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78942334
chr5:78942335 G
G
 T
T
 6 a0001c0003t0002g0270
a0001c0003t0008g0116
a0001c0003t0031g0119
others(3): Show 
a0001c0003t0002g0270
a0001c0003t0008g0116
a0001c0003t0031g0119
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
 6 HG01243.hp2
HG02615.hp1
HG02717.hp2
others(3): Show 
HG01243.hp2
HG02615.hp1
HG02717.hp2
HG02965.hp2
HG03209.hp1
HG03486.hp1
 intron_variant MODIFIER c.898+12960C>A
c.898+12960C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78942335
chr5:78942384 ATTGTAGA
others(2): Show 
ATTGTAGACC
 A
A
 211 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(208): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0009g0281
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0034g0071
a0001c0003t0048g0266
a0001c0003t0058g0045
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0017t0002g0088
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0006g0014
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 212 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(209): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp2
HG02145.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+12902_898+1291
others(13): Show 
c.898+12902_898+12910delGGTCTACAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78942384
chr5:78942385 T
T
 C
C
 1 a0002c0002t0033g0217
a0002c0002t0033g0217
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.898+12910A>G
c.898+12910A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78942385
chr5:78942410 G
G
 A
A
 1 a0001c0003t0002g0262
a0001c0003t0002g0262
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.898+12885C>T
c.898+12885C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78942410
chr5:78942482 A
A
 G
G
 18 a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0270
others(15): Show 
a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
 18 HG00733.hp1
HG01168.hp2
HG01243.hp2
others(15): Show 
HG00733.hp1
HG01168.hp2
HG01243.hp2
HG01891.hp1
HG02451.hp2
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
 intron_variant MODIFIER c.898+12813T>C
c.898+12813T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78942482
chr5:78942537 T
T
 C
C
 18 a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0270
others(15): Show 
a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
 18 HG00733.hp1
HG01168.hp2
HG01243.hp2
others(15): Show 
HG00733.hp1
HG01168.hp2
HG01243.hp2
HG01891.hp1
HG02451.hp2
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
 intron_variant MODIFIER c.898+12758A>G
c.898+12758A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78942537
chr5:78942561 G
G
 A
A
 3 a0001c0003t0006g0267
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0003t0006g0267
a0001c0009t0016g0271
a0001c0009t0016g0272
 3 HG01891.hp2
HG02145.hp1
NA19240.hp1
HG01891.hp2
HG02145.hp1
NA19240.hp1
 intron_variant MODIFIER c.898+12734C>T
c.898+12734C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78942561
chr5:78942570 G
G
 A
A
 1 a0001c0001t0001g0035
a0001c0001t0001g0035
 1 NA18957.hp1
NA18957.hp1
 intron_variant MODIFIER c.898+12725C>T
c.898+12725C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78942570
chr5:78942797 C
C
 T
T
 28 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0201
others(25): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0201
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0276
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0014g0220
a0001c0003t0035g0357
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0022t0006g0359
a0002c0002t0001g0345
a0003c0004t0003g0095
 28 HG02055.hp1
HG02056.hp2
HG02135.hp1
others(25): Show 
HG02055.hp1
HG02056.hp2
HG02135.hp1
HG02155.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02683.hp2
HG02723.hp1
HG02965.hp1
HG03017.hp2
HG03491.hp2
HG03492.hp2
HG04115.hp2
NA18906.hp2
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA19011.hp2
NA19043.hp2
NA19077.hp2
NA19240.hp2
 intron_variant MODIFIER c.898+12498G>A
c.898+12498G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78942797
chr5:78942819 A
A
 C
C
 95 a0001c0001t0001g0315
a0001c0001t0002g0005
a0001c0001t0002g0039
others(92): Show 
a0001c0001t0001g0315
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0140
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0004g0009
a0001c0001t0004g0083
a0001c0001t0005g0038
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0008g0131
a0001c0001t0010g0141
a0001c0001t0011g0046
a0001c0001t0018g0130
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0003t0002g0253
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0018g0057
a0001c0003t0058g0045
a0001c0005t0075g0112
a0001c0007t0068g0111
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0006g0014
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
 96 HG00099.hp2
HG00280.hp2
HG00323.hp1
others(93): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01109.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02647.hp2
HG02683.hp1
HG02735.hp2
HG02886.hp2
HG02896.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp2
HG03209.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04184.hp1
NA18612.hp2
NA18747.hp1
NA18947.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18972.hp1
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19043.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.898+12476T>G
c.898+12476T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78942819
chr5:78942962 T
T
 C
C
 1 a0003c0004t0002g0243
a0003c0004t0002g0243
 1 HG00673.hp2
HG00673.hp2
 intron_variant MODIFIER c.898+12333A>G
c.898+12333A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78942962
chr5:78942991 G
G
 T
T
 11 a0001c0001t0002g0092
a0001c0003t0002g0349
a0001c0003t0002g0351
others(8): Show 
a0001c0001t0002g0092
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0069g0273
 11 HG00733.hp1
HG01168.hp2
HG01891.hp1
others(8): Show 
HG00733.hp1
HG01168.hp2
HG01891.hp1
HG02572.hp1
HG02647.hp1
HG02895.hp2
HG02897.hp1
HG03139.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
 intron_variant MODIFIER c.898+12304C>A
c.898+12304C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78942991
chr5:78943151 C
C
 T
T
 4 a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
others(1): Show 
a0001c0001t0001g0335
a0001c0001t0005g0195
a0001c0001t0007g0333
a0001c0001t0059g0332
 4 HG01346.hp1
HG01943.hp2
HG01981.hp2
others(1): Show 
HG01346.hp1
HG01943.hp2
HG01981.hp2
HG02074.hp1
 intron_variant MODIFIER c.898+12144G>A
c.898+12144G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78943151
chr5:78943156 T
T
 C
C
 1 a0001c0003t0002g0262
a0001c0003t0002g0262
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.898+12139A>G
c.898+12139A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78943156
chr5:78943197 T
T
 C
C
 1 a0001c0003t0056g0022
a0001c0003t0056g0022
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.898+12098A>G
c.898+12098A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78943197
chr5:78943208 T
T
 C
C
 18 a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0270
others(15): Show 
a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
 18 HG00733.hp1
HG01168.hp2
HG01243.hp2
others(15): Show 
HG00733.hp1
HG01168.hp2
HG01243.hp2
HG01891.hp1
HG02451.hp2
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
 intron_variant MODIFIER c.898+12087A>G
c.898+12087A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78943208
chr5:78943300 T
T
 G
G
 118 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(115): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0235
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0089
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0034g0071
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0005t0074g0073
a0001c0007t0036g0259
a0001c0007t0077g0070
a0001c0017t0002g0088
a0002c0002t0003g0336
a0002c0002t0057g0284
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 118 HG00140.hp1
HG00280.hp1
HG00408.hp2
others(115): Show 
HG00140.hp1
HG00280.hp1
HG00408.hp2
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01993.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02280.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG03017.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03834.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18950.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18961.hp1
NA18962.hp2
NA18968.hp2
NA18970.hp2
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA19001.hp2
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19077.hp1
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+11995A>C
c.898+11995A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78943300
chr5:78943344 C
C
 T
T
 4 a0002c0002t0003g0196
a0002c0002t0003g0197
a0003c0004t0003g0283
others(1): Show 
a0002c0002t0003g0196
a0002c0002t0003g0197
a0003c0004t0003g0283
a0003c0004t0033g0282
 4 HG01070.hp2
HG01071.hp1
HG01255.hp2
others(1): Show 
HG01070.hp2
HG01071.hp1
HG01255.hp2
HG01358.hp2
 intron_variant MODIFIER c.898+11951G>A
c.898+11951G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78943344
chr5:78943358 G
G
 C
C
 100 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(97): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0235
a0001c0001t0007g0181
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0006g0254
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0034g0071
a0001c0003t0048g0266
a0001c0005t0074g0073
a0001c0007t0077g0070
a0001c0017t0002g0088
a0002c0002t0003g0336
a0002c0002t0057g0284
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 100 HG00140.hp1
HG00280.hp1
HG00408.hp2
others(97): Show 
HG00140.hp1
HG00280.hp1
HG00408.hp2
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp2
HG00738.hp1
HG01069.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01175.hp1
HG01175.hp2
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01943.hp1
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01993.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp2
HG02109.hp1
HG02135.hp2
HG02280.hp2
HG02572.hp2
HG02602.hp2
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03834.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18950.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18961.hp1
NA18962.hp2
NA18968.hp2
NA18970.hp2
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA19001.hp2
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19077.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+11937C>G
c.898+11937C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78943358
chr5:78943373 C
C
 T
T
 211 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(208): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0009g0281
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0034g0071
a0001c0003t0048g0266
a0001c0003t0058g0045
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0017t0002g0088
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0006g0014
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 212 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(209): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp2
HG02145.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+11922G>A
c.898+11922G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78943373
chr5:78943474 T
T
 G
G
 1 a0001c0003t0009g0281
a0001c0003t0009g0281
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.898+11821A>C
c.898+11821A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78943474
chr5:78943512 T
T
 G
G
 17 a0001c0001t0002g0092
a0001c0003t0002g0270
a0001c0003t0002g0349
others(14): Show 
a0001c0001t0002g0092
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
 17 HG00733.hp1
HG01168.hp2
HG01243.hp2
others(14): Show 
HG00733.hp1
HG01168.hp2
HG01243.hp2
HG01891.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
 intron_variant MODIFIER c.898+11783A>C
c.898+11783A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78943512
chr5:78943593 T
T
 C
C
 1 a0003c0004t0002g0243
a0003c0004t0002g0243
 1 HG00673.hp2
HG00673.hp2
 intron_variant MODIFIER c.898+11702A>G
c.898+11702A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78943593
chr5:78943612 G
G
 C
C
 292 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(289): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0006g0014
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0064g0285
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 293 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(290): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+11683C>G
c.898+11683C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78943612
chr5:78943661 G
G
 A
A
 2 a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0003t0073g0099
a0001c0005t0036g0275
 2 HG02615.hp2
HG03540.hp1
HG02615.hp2
HG03540.hp1
 intron_variant MODIFIER c.898+11634C>T
c.898+11634C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78943661
chr5:78943704 G
G
 A
A
 1 a0001c0001t0004g0278
a0001c0001t0004g0278
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.898+11591C>T
c.898+11591C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78943704
chr5:78943711 T
T
 A
A
 211 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(208): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0009g0281
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0034g0071
a0001c0003t0048g0266
a0001c0003t0058g0045
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0017t0002g0088
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0006g0014
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 212 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(209): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp2
HG02145.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+11584A>T
c.898+11584A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78943711
chr5:78943773 A
A
 G
G
 4 a0001c0001t0004g0278
a0001c0003t0006g0103
a0001c0015t0027g0102
others(1): Show 
a0001c0001t0004g0278
a0001c0003t0006g0103
a0001c0015t0027g0102
a0005c0016t0002g0237
 4 HG02055.hp2
HG02622.hp2
HG02809.hp2
others(1): Show 
HG02055.hp2
HG02622.hp2
HG02809.hp2
HG02922.hp2
 intron_variant MODIFIER c.898+11522T>C
c.898+11522T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78943773
chr5:78943836 C
C
 T
T
 2 a0001c0003t0002g0262
a0005c0016t0002g0237
a0001c0003t0002g0262
a0005c0016t0002g0237
 2 HG02451.hp2
HG02809.hp2
HG02451.hp2
HG02809.hp2
 intron_variant MODIFIER c.898+11459G>A
c.898+11459G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78943836
chr5:78944035 G
G
 C
C
 18 a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0270
others(15): Show 
a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
 18 HG00733.hp1
HG01168.hp2
HG01243.hp2
others(15): Show 
HG00733.hp1
HG01168.hp2
HG01243.hp2
HG01891.hp1
HG02451.hp2
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
 intron_variant MODIFIER c.898+11260C>G
c.898+11260C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78944035
chr5:78944036 A
A
 C
C
 18 a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0270
others(15): Show 
a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
 18 HG00733.hp1
HG01168.hp2
HG01243.hp2
others(15): Show 
HG00733.hp1
HG01168.hp2
HG01243.hp2
HG01891.hp1
HG02451.hp2
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
 intron_variant MODIFIER c.898+11259T>G
c.898+11259T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78944036
chr5:78944059 G
G
 T
T
 1 a0001c0003t0056g0022
a0001c0003t0056g0022
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.898+11236C>A
c.898+11236C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78944059
chr5:78944092 C
C
 T
T
 1 a0001c0003t0002g0262
a0001c0003t0002g0262
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.898+11203G>A
c.898+11203G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78944092
chr5:78944162 T
T
 G
G
 3 a0001c0001t0002g0201
a0001c0001t0003g0293
a0001c0001t0011g0242
a0001c0001t0002g0201
a0001c0001t0003g0293
a0001c0001t0011g0242
 3 NA18972.hp2
NA18988.hp2
NA18989.hp1
NA18972.hp2
NA18988.hp2
NA18989.hp1
 intron_variant MODIFIER c.898+11133A>C
c.898+11133A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78944162
chr5:78944192 A
A
 T
T
 5 a0002c0002t0005g0192
a0002c0002t0006g0191
a0002c0002t0006g0211
others(2): Show 
a0002c0002t0005g0192
a0002c0002t0006g0191
a0002c0002t0006g0211
a0002c0002t0009g0193
a0002c0002t0009g0194
 5 HG01346.hp2
HG01975.hp2
HG02004.hp1
others(2): Show 
HG01346.hp2
HG01975.hp2
HG02004.hp1
HG02293.hp2
NA20300.hp2
 intron_variant MODIFIER c.898+11103T>A
c.898+11103T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78944192
chr5:78944211 C
C
 A
A
 18 a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0270
others(15): Show 
a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
 18 HG00733.hp1
HG01168.hp2
HG01243.hp2
others(15): Show 
HG00733.hp1
HG01168.hp2
HG01243.hp2
HG01891.hp1
HG02451.hp2
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
 intron_variant MODIFIER c.898+11084G>T
c.898+11084G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78944211
chr5:78944253 C
C
 T
T
 83 a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0003g0019
others(80): Show 
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0140
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0004g0083
a0001c0001t0005g0038
a0001c0001t0008g0131
a0001c0001t0010g0141
a0001c0001t0011g0046
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0003t0002g0253
a0001c0003t0058g0045
a0001c0005t0075g0112
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
 84 HG00099.hp2
HG00280.hp2
HG00323.hp1
others(81): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01517.hp2
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02647.hp2
HG02683.hp1
HG02735.hp2
HG02886.hp2
HG02976.hp1
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04184.hp1
NA18612.hp2
NA18747.hp1
NA18947.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18972.hp1
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19043.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp1
 intron_variant MODIFIER c.898+11042G>A
c.898+11042G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78944253
chr5:78944293 C
C
 T
T
 1 a0001c0001t0004g0278
a0001c0001t0004g0278
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.898+11002G>A
c.898+11002G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78944293
chr5:78944310 G
G
 A
A
 117 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(114): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0235
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0351
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0089
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0034g0071
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0005t0074g0073
a0001c0007t0036g0259
a0001c0007t0077g0070
a0001c0017t0002g0088
a0002c0002t0003g0336
a0002c0002t0057g0284
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 117 HG00140.hp1
HG00280.hp1
HG00408.hp2
others(114): Show 
HG00140.hp1
HG00280.hp1
HG00408.hp2
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp2
HG00733.hp1
HG00738.hp1
HG00741.hp1
HG01069.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01993.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02280.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG03017.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03834.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18950.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18961.hp1
NA18962.hp2
NA18970.hp2
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18992.hp2
NA18993.hp1
NA18995.hp1
NA19001.hp2
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19077.hp1
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+10985C>T
c.898+10985C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78944310
chr5:78944542 A
A
 G
G
 18 a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0270
others(15): Show 
a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
 18 HG00733.hp1
HG01168.hp2
HG01243.hp2
others(15): Show 
HG00733.hp1
HG01168.hp2
HG01243.hp2
HG01891.hp1
HG02451.hp2
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
 intron_variant MODIFIER c.898+10753T>C
c.898+10753T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78944542
chr5:78944592 G
G
 A
A
 2 a0001c0001t0007g0115
a0001c0001t0031g0324
a0001c0001t0007g0115
a0001c0001t0031g0324
 2 HG02809.hp1
HG03130.hp2
HG02809.hp1
HG03130.hp2
 intron_variant MODIFIER c.898+10703C>T
c.898+10703C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78944592
chr5:78944747 T
T
 C
C
 5 a0001c0001t0002g0005
a0001c0001t0004g0009
a0001c0001t0006g0219
others(2): Show 
a0001c0001t0002g0005
a0001c0001t0004g0009
a0001c0001t0006g0219
a0001c0003t0012g0166
a0001c0003t0018g0057
 5 HG01109.hp2
HG03098.hp2
HG03209.hp2
others(2): Show 
HG01109.hp2
HG03098.hp2
HG03209.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.898+10548A>G
c.898+10548A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78944747
chr5:78944862 C
C
 A
A
 8 a0002c0002t0002g0186
a0002c0002t0006g0126
a0002c0002t0006g0204
others(5): Show 
a0002c0002t0002g0186
a0002c0002t0006g0126
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0294
a0002c0002t0063g0198
a0002c0002t0067g0203
a0002c0002t0071g0280
 8 HG00642.hp2
HG00733.hp2
HG01106.hp1
others(5): Show 
HG00642.hp2
HG00733.hp2
HG01106.hp1
HG01109.hp1
HG01517.hp1
HG02109.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.898+10433G>T
c.898+10433G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78944862
chr5:78944867 C
C
 T
T
 9 a0002c0002t0001g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
others(6): Show 
a0002c0002t0001g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0003g0025
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0042g0224
a0002c0002t0045g0302
 9 HG00423.hp2
HG00609.hp2
HG02129.hp1
others(6): Show 
HG00423.hp2
HG00609.hp2
HG02129.hp1
NA18943.hp1
NA18946.hp1
NA18963.hp2
NA18984.hp2
NA18993.hp2
NA18995.hp2
 intron_variant MODIFIER c.898+10428G>A
c.898+10428G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78944867
chr5:78944886 C
C
 T
T
 95 a0001c0001t0001g0315
a0001c0001t0002g0005
a0001c0001t0002g0039
others(92): Show 
a0001c0001t0001g0315
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0140
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0004g0009
a0001c0001t0004g0083
a0001c0001t0005g0038
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0008g0131
a0001c0001t0010g0141
a0001c0001t0011g0046
a0001c0001t0018g0130
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0003t0002g0253
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0018g0057
a0001c0003t0058g0045
a0001c0005t0075g0112
a0001c0007t0068g0111
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0006g0014
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
 96 HG00099.hp2
HG00280.hp2
HG00323.hp1
others(93): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01109.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02647.hp2
HG02683.hp1
HG02735.hp2
HG02886.hp2
HG02896.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp2
HG03209.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04184.hp1
NA18612.hp2
NA18747.hp1
NA18947.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18972.hp1
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19043.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.898+10409G>A
c.898+10409G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78944886
chr5:78944933 G
G
 A
A
 3 a0001c0001t0003g0301
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0003g0301
a0001c0001t0019g0249
a0001c0001t0020g0290
 3 NA18948.hp2
NA19011.hp2
NA19077.hp2
NA18948.hp2
NA19011.hp2
NA19077.hp2
 intron_variant MODIFIER c.898+10362C>T
c.898+10362C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78944933
chr5:78944942 G
G
 A
A
 1 a0001c0003t0002g0262
a0001c0003t0002g0262
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.898+10353C>T
c.898+10353C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78944942
chr5:78944990 C
C
 T
T
 116 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(113): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0235
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0006g0254
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0089
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0034g0071
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0005t0074g0073
a0001c0007t0036g0259
a0001c0007t0077g0070
a0001c0017t0002g0088
a0002c0002t0003g0336
a0002c0002t0057g0284
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 116 HG00140.hp1
HG00280.hp1
HG00408.hp2
others(113): Show 
HG00140.hp1
HG00280.hp1
HG00408.hp2
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp2
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01993.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02280.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG03017.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03834.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18950.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18961.hp1
NA18962.hp2
NA18970.hp2
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18992.hp2
NA18993.hp1
NA18995.hp1
NA19001.hp2
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19077.hp1
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+10305G>A
c.898+10305G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78944990
chr5:78944999 C
C
 T
T
 16 a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0001t0044g0091
others(13): Show 
a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0089
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0007t0036g0259
 16 HG00741.hp1
HG01243.hp1
HG01884.hp1
others(13): Show 
HG00741.hp1
HG01243.hp1
HG01884.hp1
HG02258.hp2
HG02559.hp2
HG02622.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG03195.hp1
HG03516.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.898+10296G>A
c.898+10296G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78944999
chr5:78945082 G
G
 A
A
 21 a0001c0001t0002g0092
a0001c0001t0004g0009
a0001c0001t0006g0219
others(18): Show 
a0001c0001t0002g0092
a0001c0001t0004g0009
a0001c0001t0006g0219
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
 21 HG00733.hp1
HG01168.hp2
HG01243.hp2
others(18): Show 
HG00733.hp1
HG01168.hp2
HG01243.hp2
HG01891.hp1
HG02451.hp2
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
NA20129.hp2
 intron_variant MODIFIER c.898+10213C>T
c.898+10213C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78945082
chr5:78945121 T
T
 G
G
 1 a0001c0001t0013g0329
a0001c0001t0013g0329
 1 NA18953.hp2
NA18953.hp2
 intron_variant MODIFIER c.898+10174A>C
c.898+10174A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78945121
chr5:78945169 C
C
 T
T
 1 a0001c0001t0003g0093
a0001c0001t0003g0093
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.898+10126G>A
c.898+10126G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78945169
chr5:78945300 A
A
 G
G
 356 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(353): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 357 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(354): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.898+9995T>C
c.898+9995T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78945300
chr5:78945335 T
T
 C
C
 1 a0002c0002t0011g0234
a0002c0002t0011g0234
 1 NA18612.hp1
NA18612.hp1
 intron_variant MODIFIER c.898+9960A>G
c.898+9960A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78945335
chr5:78945364 G
G
 A
A
 9 a0001c0001t0001g0236
a0001c0001t0002g0104
a0001c0001t0008g0223
others(6): Show 
a0001c0001t0001g0236
a0001c0001t0002g0104
a0001c0001t0008g0223
a0001c0001t0008g0297
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0065g0017
a0001c0003t0073g0099
a0001c0005t0036g0275
 9 HG00280.hp1
HG02615.hp2
HG03540.hp1
others(6): Show 
HG00280.hp1
HG02615.hp2
HG03540.hp1
NA18944.hp2
NA18959.hp1
NA18983.hp2
NA19010.hp2
NA19066.hp1
NA19066.hp2
 intron_variant MODIFIER c.898+9931C>T
c.898+9931C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78945364
chr5:78945483 C
C
 T
T
 229 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(226): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0048g0266
a0001c0003t0058g0045
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0017t0002g0088
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0006g0014
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 230 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(227): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp2
HG02145.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+9812G>A
c.898+9812G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78945483
chr5:78945539 G
G
 A
A
 17 a0001c0001t0002g0092
a0001c0003t0002g0270
a0001c0003t0002g0349
others(14): Show 
a0001c0001t0002g0092
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
 17 HG00733.hp1
HG01168.hp2
HG01243.hp2
others(14): Show 
HG00733.hp1
HG01168.hp2
HG01243.hp2
HG01891.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
 intron_variant MODIFIER c.898+9756C>T
c.898+9756C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78945539
chr5:78945599 C
C
 A
A
 3 a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0007t0036g0259
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0007t0036g0259
 3 HG02818.hp2
HG02922.hp1
HG03195.hp1
HG02818.hp2
HG02922.hp1
HG03195.hp1
 intron_variant MODIFIER c.898+9696G>T
c.898+9696G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78945599
chr5:78945632 T
T
 C
C
 28 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0201
others(25): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0201
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0276
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0014g0220
a0001c0003t0035g0357
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0022t0006g0359
a0002c0002t0001g0345
a0003c0004t0003g0095
 28 HG02055.hp1
HG02056.hp2
HG02135.hp1
others(25): Show 
HG02055.hp1
HG02056.hp2
HG02135.hp1
HG02155.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02683.hp2
HG02723.hp1
HG02965.hp1
HG03017.hp2
HG03491.hp2
HG03492.hp2
HG04115.hp2
NA18906.hp2
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA19011.hp2
NA19043.hp2
NA19077.hp2
NA19240.hp2
 intron_variant MODIFIER c.898+9663A>G
c.898+9663A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78945632
chr5:78945784 T
T
 A
A
 4 a0001c0001t0004g0278
a0001c0003t0006g0103
a0001c0015t0027g0102
others(1): Show 
a0001c0001t0004g0278
a0001c0003t0006g0103
a0001c0015t0027g0102
a0005c0016t0002g0237
 4 HG02055.hp2
HG02622.hp2
HG02809.hp2
others(1): Show 
HG02055.hp2
HG02622.hp2
HG02809.hp2
HG02922.hp2
 intron_variant MODIFIER c.898+9511A>T
c.898+9511A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78945784
chr5:78945869 C
C
 T
T
 1 a0001c0001t0008g0286
a0001c0001t0008g0286
 1 HG02056.hp1
HG02056.hp1
 intron_variant MODIFIER c.898+9426G>A
c.898+9426G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78945869
chr5:78945916 G
G
 A
A
 17 a0001c0001t0002g0092
a0001c0003t0002g0270
a0001c0003t0002g0349
others(14): Show 
a0001c0001t0002g0092
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
 17 HG00733.hp1
HG01168.hp2
HG01243.hp2
others(14): Show 
HG00733.hp1
HG01168.hp2
HG01243.hp2
HG01891.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
 intron_variant MODIFIER c.898+9379C>T
c.898+9379C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78945916
chr5:78946049 T
T
 C
C
 18 a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0270
others(15): Show 
a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
 18 HG00733.hp1
HG01168.hp2
HG01243.hp2
others(15): Show 
HG00733.hp1
HG01168.hp2
HG01243.hp2
HG01891.hp1
HG02451.hp2
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
 intron_variant MODIFIER c.898+9246A>G
c.898+9246A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78946049
chr5:78946063 C
C
 T
T
 3 a0003c0004t0003g0292
a0003c0004t0054g0142
a0003c0004t0072g0323
a0003c0004t0003g0292
a0003c0004t0054g0142
a0003c0004t0072g0323
 3 HG00642.hp1
HG02145.hp2
HG02280.hp1
HG00642.hp1
HG02145.hp2
HG02280.hp1
 intron_variant MODIFIER c.898+9232G>A
c.898+9232G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78946063
chr5:78946096 G
G
 A
A
 18 a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0270
others(15): Show 
a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
 18 HG00733.hp1
HG01168.hp2
HG01243.hp2
others(15): Show 
HG00733.hp1
HG01168.hp2
HG01243.hp2
HG01891.hp1
HG02451.hp2
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
 intron_variant MODIFIER c.898+9199C>T
c.898+9199C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78946096
chr5:78946459 G
G
 T
T
 1 a0002c0002t0002g0085
a0002c0002t0002g0085
 1 NA18963.hp2
NA18963.hp2
 intron_variant MODIFIER c.898+8836C>A
c.898+8836C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78946459
chr5:78946502 C
C
 G
G
 28 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0201
others(25): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0201
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0276
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0014g0220
a0001c0003t0035g0357
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0022t0006g0359
a0002c0002t0001g0345
a0003c0004t0003g0095
 28 HG02055.hp1
HG02056.hp2
HG02135.hp1
others(25): Show 
HG02055.hp1
HG02056.hp2
HG02135.hp1
HG02155.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02683.hp2
HG02723.hp1
HG02965.hp1
HG03017.hp2
HG03491.hp2
HG03492.hp2
HG04115.hp2
NA18906.hp2
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA19011.hp2
NA19043.hp2
NA19077.hp2
NA19240.hp2
 intron_variant MODIFIER c.898+8793G>C
c.898+8793G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78946502
chr5:78946838 A
A
 T
T
 17 a0001c0001t0002g0092
a0001c0003t0002g0270
a0001c0003t0002g0349
others(14): Show 
a0001c0001t0002g0092
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
 17 HG00733.hp1
HG01168.hp2
HG01243.hp2
others(14): Show 
HG00733.hp1
HG01168.hp2
HG01243.hp2
HG01891.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
 intron_variant MODIFIER c.898+8457T>A
c.898+8457T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78946838
chr5:78946859 C
C
 T
T
 2 a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0011
a0001c0003t0007g0012
 2 HG02896.hp2
HG02897.hp2
HG02896.hp2
HG02897.hp2
 intron_variant MODIFIER c.898+8436G>A
c.898+8436G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78946859
chr5:78947152 C
C
 A
A
 3 a0001c0001t0004g0009
a0001c0001t0006g0219
a0001c0003t0018g0057
a0001c0001t0004g0009
a0001c0001t0006g0219
a0001c0003t0018g0057
 3 HG03098.hp2
HG03209.hp2
NA20129.hp2
HG03098.hp2
HG03209.hp2
NA20129.hp2
 intron_variant MODIFIER c.898+8143G>T
c.898+8143G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78947152
chr5:78947180 T
T
 A
A
 229 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(226): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0048g0266
a0001c0003t0058g0045
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0017t0002g0088
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0006g0014
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 230 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(227): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp2
HG02145.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+8115A>T
c.898+8115A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78947180
chr5:78947243 C
C
 T
T
 1 a0001c0001t0002g0200
a0001c0001t0002g0200
 1 NA19063.hp2
NA19063.hp2
 intron_variant MODIFIER c.898+8052G>A
c.898+8052G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78947243
chr5:78947509 C
C
 T
T
 3 a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
 3 HG01496.hp1
HG02896.hp1
HG03225.hp1
HG01496.hp1
HG02896.hp1
HG03225.hp1
 intron_variant MODIFIER c.898+7786G>A
c.898+7786G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78947509
chr5:78947510 G
G
 A
A
 2 a0001c0001t0007g0115
a0001c0001t0031g0324
a0001c0001t0007g0115
a0001c0001t0031g0324
 2 HG02809.hp1
HG03130.hp2
HG02809.hp1
HG03130.hp2
 intron_variant MODIFIER c.898+7785C>T
c.898+7785C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78947510
chr5:78947593 C
C
 A
A
 1 a0002c0002t0003g0306
a0002c0002t0003g0306
 1 NA18941.hp2
NA18941.hp2
 intron_variant MODIFIER c.898+7702G>T
c.898+7702G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78947593
chr5:78947684 G
G
 A
A
 3 a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
 3 HG01496.hp1
HG02896.hp1
HG03225.hp1
HG01496.hp1
HG02896.hp1
HG03225.hp1
 intron_variant MODIFIER c.898+7611C>T
c.898+7611C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78947684
chr5:78947713 G
G
 A
A
 1 a0002c0002t0066g0355
a0002c0002t0066g0355
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.898+7582C>T
c.898+7582C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78947713
chr5:78947748 A
A
 G
G
 18 a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0031g0324
others(15): Show 
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0089
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0007t0036g0259
 18 HG00741.hp1
HG01243.hp1
HG01884.hp1
others(15): Show 
HG00741.hp1
HG01243.hp1
HG01884.hp1
HG02258.hp2
HG02559.hp2
HG02622.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG03130.hp2
HG03195.hp1
HG03516.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.898+7547T>C
c.898+7547T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78947748
chr5:78948042 C
C
 T
T
 1 a0001c0003t0002g0262
a0001c0003t0002g0262
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.898+7253G>A
c.898+7253G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78948042
chr5:78948283 A
A
 G
G
 117 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(114): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0235
a0001c0001t0007g0181
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0048g0266
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0005t0074g0073
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0017t0002g0088
a0002c0002t0003g0336
a0002c0002t0057g0284
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 117 HG00140.hp1
HG00280.hp1
HG00408.hp2
others(114): Show 
HG00140.hp1
HG00280.hp1
HG00408.hp2
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp2
HG00733.hp1
HG00738.hp1
HG01069.hp2
HG01071.hp2
HG01074.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01891.hp1
HG01943.hp1
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01993.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp2
HG02109.hp1
HG02135.hp2
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03834.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18950.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18961.hp1
NA18962.hp2
NA18968.hp2
NA18970.hp2
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA19001.hp2
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19077.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+7012T>C
c.898+7012T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78948283
chr5:78948408 A
A
 C
C
 1 a0002c0002t0066g0355
a0002c0002t0066g0355
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.898+6887T>G
c.898+6887T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78948408
chr5:78948594 A
A
 G
G
 1 a0002c0002t0006g0205
a0002c0002t0006g0205
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.898+6701T>C
c.898+6701T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78948594
chr5:78949001 A
A
 G
G
 1 a0001c0003t0002g0320
a0001c0003t0002g0320
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.898+6294T>C
c.898+6294T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78949001
chr5:78949007 C
C
 A
A
 1 a0001c0001t0002g0261
a0001c0001t0002g0261
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.898+6288G>T
c.898+6288G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78949007
chr5:78949059 C
C
 T
T
 11 a0001c0001t0002g0092
a0001c0003t0002g0349
a0001c0003t0002g0351
others(8): Show 
a0001c0001t0002g0092
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0069g0273
 11 HG00733.hp1
HG01168.hp2
HG01891.hp1
others(8): Show 
HG00733.hp1
HG01168.hp2
HG01891.hp1
HG02572.hp1
HG02647.hp1
HG02895.hp2
HG02897.hp1
HG03139.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
 intron_variant MODIFIER c.898+6236G>A
c.898+6236G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78949059
chr5:78949282 C
C
 T
T
 1 a0002c0002t0003g0336
a0002c0002t0003g0336
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.898+6013G>A
c.898+6013G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78949282
chr5:78949283 A
A
 G
G
 255 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(252): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0320
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0017t0002g0088
a0001c0021t0003g0358
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0057g0284
a0002c0002t0064g0285
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
a0007c0012t0032g0180
 256 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(253): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp1
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+6012T>C
c.898+6012T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78949283
chr5:78949452 G
G
 C
C
 18 a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0270
others(15): Show 
a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
 18 HG00733.hp1
HG01168.hp2
HG01243.hp2
others(15): Show 
HG00733.hp1
HG01168.hp2
HG01243.hp2
HG01891.hp1
HG02451.hp2
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
 intron_variant MODIFIER c.898+5843C>G
c.898+5843C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78949452
chr5:78949727 T
T
 G
G
 22 a0001c0001t0002g0092
a0001c0001t0006g0356
a0001c0001t0018g0130
others(19): Show 
a0001c0001t0002g0092
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
 22 HG00733.hp1
HG01168.hp2
HG01243.hp2
others(19): Show 
HG00733.hp1
HG01168.hp2
HG01243.hp2
HG01891.hp1
HG02040.hp2
HG02451.hp2
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp2
 intron_variant MODIFIER c.898+5568A>C
c.898+5568A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78949727
chr5:78949731 G
G
 A
A
 1 a0001c0003t0002g0262
a0001c0003t0002g0262
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.898+5564C>T
c.898+5564C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78949731
chr5:78949757 A
A
 C
C
 1 a0001c0003t0006g0254
a0001c0003t0006g0254
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.898+5538T>G
c.898+5538T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78949757
chr5:78949897 G
G
 A
A
 2 a0001c0001t0002g0005
a0001c0003t0012g0166
a0001c0001t0002g0005
a0001c0003t0012g0166
 2 HG01109.hp2
NA21309.hp1
HG01109.hp2
NA21309.hp1
 intron_variant MODIFIER c.898+5398C>T
c.898+5398C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78949897
chr5:78949925 A
A
 G
G
 203 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(200): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0235
a0001c0001t0006g0356
a0001c0001t0007g0181
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0048g0266
a0001c0003t0058g0045
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0017t0002g0088
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0057g0284
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 204 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(201): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp2
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+5370T>C
c.898+5370T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78949925
chr5:78950031 C
C
 G
G
 1 a0001c0003t0002g0262
a0001c0003t0002g0262
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.898+5264G>C
c.898+5264G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78950031
chr5:78950077 G
G
 T
T
 3 a0001c0001t0004g0009
a0001c0001t0006g0219
a0001c0003t0018g0057
a0001c0001t0004g0009
a0001c0001t0006g0219
a0001c0003t0018g0057
 3 HG03098.hp2
HG03209.hp2
NA20129.hp2
HG03098.hp2
HG03209.hp2
NA20129.hp2
 intron_variant MODIFIER c.898+5218C>A
c.898+5218C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78950077
chr5:78950245 A
A
 G
G
 3 a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0007t0036g0259
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0007t0036g0259
 3 HG02818.hp2
HG02922.hp1
HG03195.hp1
HG02818.hp2
HG02922.hp1
HG03195.hp1
 intron_variant MODIFIER c.898+5050T>C
c.898+5050T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78950245
chr5:78950361 C
C
 T
T
 1 a0003c0004t0062g0133
a0003c0004t0062g0133
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.898+4934G>A
c.898+4934G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78950361
chr5:78950366 T
T
 G
G
 16 a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0001t0044g0091
others(13): Show 
a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0089
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0007t0036g0259
 16 HG00741.hp1
HG01243.hp1
HG01884.hp1
others(13): Show 
HG00741.hp1
HG01243.hp1
HG01884.hp1
HG02258.hp2
HG02559.hp2
HG02622.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG03195.hp1
HG03516.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.898+4929A>C
c.898+4929A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78950366
chr5:78950444 G
G
 A
A
 2 a0001c0003t0002g0338
a0001c0003t0014g0220
a0001c0003t0002g0338
a0001c0003t0014g0220
 2 HG02056.hp2
HG02155.hp2
HG02056.hp2
HG02155.hp2
 intron_variant MODIFIER c.898+4851C>T
c.898+4851C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78950444
chr5:78950450 T
T
 C
C
 1 a0002c0002t0001g0054
a0002c0002t0001g0054
 1 HG00609.hp2
HG00609.hp2
 intron_variant MODIFIER c.898+4845A>G
c.898+4845A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78950450
chr5:78950707 A
A
 G
G
 6 a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0035g0357
others(3): Show 
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0035g0357
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0022t0006g0359
 6 HG02258.hp1
HG02451.hp1
HG02559.hp1
others(3): Show 
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02723.hp1
HG02965.hp1
NA19043.hp2
 intron_variant MODIFIER c.898+4588T>C
c.898+4588T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78950707
chr5:78950722 T
T
 A
A
 1 a0001c0007t0068g0111
a0001c0007t0068g0111
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.898+4573A>T
c.898+4573A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78950722
chr5:78950750 T
T
 C
C
 1 a0002c0002t0057g0284
a0002c0002t0057g0284
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.898+4545A>G
c.898+4545A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78950750
chr5:78950770 A
A
 C
C
 83 a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0003g0019
others(80): Show 
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0140
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0004g0083
a0001c0001t0005g0038
a0001c0001t0008g0131
a0001c0001t0010g0141
a0001c0001t0011g0046
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0003t0002g0253
a0001c0003t0058g0045
a0001c0005t0075g0112
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
 84 HG00099.hp2
HG00280.hp2
HG00323.hp1
others(81): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01517.hp2
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02647.hp2
HG02683.hp1
HG02735.hp2
HG02886.hp2
HG02976.hp1
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04184.hp1
NA18612.hp2
NA18747.hp1
NA18947.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18972.hp1
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19043.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp1
 intron_variant MODIFIER c.898+4525T>G
c.898+4525T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78950770
chr5:78950832 T
T
 A
A
 28 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0201
others(25): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0201
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0276
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0014g0220
a0001c0003t0035g0357
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0022t0006g0359
a0002c0002t0001g0345
a0003c0004t0003g0095
 28 HG02055.hp1
HG02056.hp2
HG02135.hp1
others(25): Show 
HG02055.hp1
HG02056.hp2
HG02135.hp1
HG02155.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02683.hp2
HG02723.hp1
HG02965.hp1
HG03017.hp2
HG03491.hp2
HG03492.hp2
HG04115.hp2
NA18906.hp2
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA19011.hp2
NA19043.hp2
NA19077.hp2
NA19240.hp2
 intron_variant MODIFIER c.898+4463A>T
c.898+4463A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78950832
chr5:78950973 T
T
 C
C
 201 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(198): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0235
a0001c0001t0006g0356
a0001c0001t0007g0181
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0048g0266
a0001c0003t0058g0045
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0017t0002g0088
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0057g0284
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 202 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(199): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp2
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+4322A>G
c.898+4322A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78950973
chr5:78951014 A
A
 G
G
 29 a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
others(26): Show 
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0209
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0007g0333
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0320
a0001c0003t0002g0342
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0015g0346
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0007t0004g0100
a0001c0021t0003g0358
a0002c0002t0064g0285
a0007c0012t0032g0180
 29 HG00544.hp2
HG01069.hp1
HG01074.hp1
others(26): Show 
HG00544.hp2
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01261.hp2
HG01346.hp1
HG01943.hp2
HG01981.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp1
HG02738.hp1
HG03490.hp1
HG03491.hp1
HG03540.hp2
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19074.hp1
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.898+4281T>C
c.898+4281T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78951014
chr5:78951116 C
C
 T
T
 1 a0001c0003t0070g0251
a0001c0003t0070g0251
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.898+4179G>A
c.898+4179G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78951116
chr5:78951285 C
C
 G
G
 4 a0001c0001t0004g0278
a0001c0003t0006g0103
a0001c0015t0027g0102
others(1): Show 
a0001c0001t0004g0278
a0001c0003t0006g0103
a0001c0015t0027g0102
a0005c0016t0002g0237
 4 HG02055.hp2
HG02622.hp2
HG02809.hp2
others(1): Show 
HG02055.hp2
HG02622.hp2
HG02809.hp2
HG02922.hp2
 intron_variant MODIFIER c.898+4010G>C
c.898+4010G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78951285
chr5:78951331 C
C
 T
T
 83 a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0003g0019
others(80): Show 
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0140
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0004g0083
a0001c0001t0005g0038
a0001c0001t0008g0131
a0001c0001t0010g0141
a0001c0001t0011g0046
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0003t0002g0253
a0001c0003t0058g0045
a0001c0005t0075g0112
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
 84 HG00099.hp2
HG00280.hp2
HG00323.hp1
others(81): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01517.hp2
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02647.hp2
HG02683.hp1
HG02735.hp2
HG02886.hp2
HG02976.hp1
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04184.hp1
NA18612.hp2
NA18747.hp1
NA18947.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18972.hp1
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19043.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp1
 intron_variant MODIFIER c.898+3964G>A
c.898+3964G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78951331
chr5:78951341 C
C
 T
T
 11 a0001c0001t0002g0092
a0001c0003t0002g0349
a0001c0003t0002g0351
others(8): Show 
a0001c0001t0002g0092
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0069g0273
 11 HG00733.hp1
HG01168.hp2
HG01891.hp1
others(8): Show 
HG00733.hp1
HG01168.hp2
HG01891.hp1
HG02572.hp1
HG02647.hp1
HG02895.hp2
HG02897.hp1
HG03139.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
 intron_variant MODIFIER c.898+3954G>A
c.898+3954G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78951341
chr5:78951891 C
C
 T
T
 292 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(289): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0006g0014
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0064g0285
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
a0006c0020t0003g0127
a0007c0012t0032g0180
 293 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(290): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+3404G>A
c.898+3404G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78951891
chr5:78952090 C
C
 T
T
 34 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0201
others(31): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0201
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0276
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0014g0220
a0001c0003t0035g0357
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0032g0117
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0015t0027g0102
a0001c0022t0006g0359
a0002c0002t0001g0345
a0003c0004t0003g0095
a0005c0016t0002g0237
 34 HG02055.hp1
HG02055.hp2
HG02056.hp2
others(31): Show 
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02135.hp1
HG02155.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02615.hp2
HG02622.hp2
HG02683.hp2
HG02723.hp1
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG03017.hp2
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG04115.hp2
NA18906.hp2
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA19011.hp2
NA19043.hp2
NA19077.hp2
NA19240.hp2
 intron_variant MODIFIER c.898+3205G>A
c.898+3205G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78952090
chr5:78952095 T
T
 C
C
 1 a0001c0005t0035g0165
a0001c0005t0035g0165
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.898+3200A>G
c.898+3200A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78952095
chr5:78952103 A
A
 C
C
 1 a0001c0003t0006g0103
a0001c0003t0006g0103
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.898+3192T>G
c.898+3192T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78952103
chr5:78952186 T
T
 C
C
 255 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(252): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0320
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0017t0002g0088
a0001c0021t0003g0358
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0057g0284
a0002c0002t0064g0285
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
a0007c0012t0032g0180
 256 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(253): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp1
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+3109A>G
c.898+3109A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78952186
chr5:78952197 ACTAT
ACTAT
 A
A
 85 a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0003g0019
others(82): Show 
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0140
a0001c0001t0004g0083
a0001c0001t0005g0038
a0001c0001t0006g0356
a0001c0001t0008g0131
a0001c0001t0010g0141
a0001c0001t0011g0046
a0001c0001t0018g0130
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0003t0002g0253
a0001c0003t0009g0281
a0001c0003t0058g0045
a0001c0005t0075g0112
a0001c0007t0068g0111
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
 86 HG00099.hp2
HG00280.hp2
HG00323.hp1
others(83): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01517.hp2
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02647.hp2
HG02683.hp1
HG02735.hp2
HG02886.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04184.hp1
NA18612.hp2
NA18747.hp1
NA18947.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18972.hp1
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19043.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp1
 intron_variant MODIFIER c.898+3094_898+3097d
others(6): Show 
c.898+3094_898+3097delATAG
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78952197
chr5:78952327 CTTCT
CTTCT
 C
C
 252 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(249): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0320
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0017t0002g0088
a0001c0021t0003g0358
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0057g0284
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
a0007c0012t0032g0180
 253 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(250): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp1
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+2964_898+2967d
others(6): Show 
c.898+2964_898+2967delAGAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78952327
chr5:78952433 C
C
 A
A
 1 a0001c0001t0001g0024
a0001c0001t0001g0024
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.898+2862G>T
c.898+2862G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78952433
chr5:78952496 C
C
 T
T
 1 a0002c0002t0055g0094
a0002c0002t0055g0094
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.898+2799G>A
c.898+2799G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78952496
chr5:78952616 C
C
 T
T
 5 a0001c0001t0002g0005
a0001c0001t0004g0009
a0001c0001t0006g0219
others(2): Show 
a0001c0001t0002g0005
a0001c0001t0004g0009
a0001c0001t0006g0219
a0001c0003t0012g0166
a0001c0003t0018g0057
 5 HG01109.hp2
HG03098.hp2
HG03209.hp2
others(2): Show 
HG01109.hp2
HG03098.hp2
HG03209.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.898+2679G>A
c.898+2679G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78952616
chr5:78952837 A
A
 C
C
 203 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(200): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0235
a0001c0001t0006g0356
a0001c0001t0007g0181
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0048g0266
a0001c0003t0058g0045
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0017t0002g0088
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0057g0284
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 204 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(201): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp2
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+2458T>G
c.898+2458T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78952837
chr5:78952855 A
A
 G
G
 203 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(200): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0236
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0235
a0001c0001t0006g0356
a0001c0001t0007g0181
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0223
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0048g0266
a0001c0003t0058g0045
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0017t0002g0088
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0057g0284
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
 204 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(201): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp2
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.898+2440T>C
c.898+2440T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78952855
chr5:78953169 C
C
 T
T
 2 a0001c0001t0007g0115
a0001c0001t0031g0324
a0001c0001t0007g0115
a0001c0001t0031g0324
 2 HG02809.hp1
HG03130.hp2
HG02809.hp1
HG03130.hp2
 intron_variant MODIFIER c.898+2126G>A
c.898+2126G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78953169
chr5:78953179 C
C
 T
T
 5 a0001c0001t0002g0005
a0001c0001t0004g0009
a0001c0001t0006g0219
others(2): Show 
a0001c0001t0002g0005
a0001c0001t0004g0009
a0001c0001t0006g0219
a0001c0003t0012g0166
a0001c0003t0018g0057
 5 HG01109.hp2
HG03098.hp2
HG03209.hp2
others(2): Show 
HG01109.hp2
HG03098.hp2
HG03209.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.898+2116G>A
c.898+2116G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78953179
chr5:78953226 A
A
 G
G
 1 a0002c0002t0002g0179
a0002c0002t0002g0179
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.898+2069T>C
c.898+2069T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78953226
chr5:78953255 G
G
 T
T
 103 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0201
others(100): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0201
a0001c0001t0002g0261
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0276
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0006g0267
a0001c0003t0010g0157
a0001c0003t0014g0220
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0032g0117
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0003g0095
a0005c0016t0002g0237
 103 HG00099.hp1
HG00140.hp2
HG00323.hp2
others(100): Show 
HG00099.hp1
HG00140.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp2
HG02258.hp1
HG02293.hp2
HG02451.hp1
HG02559.hp1
HG02615.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp1
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp2
HG03710.hp1
HG04115.hp1
HG04115.hp2
NA18612.hp1
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp2
NA18953.hp1
NA18960.hp2
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19011.hp2
NA19043.hp2
NA19057.hp2
NA19068.hp2
NA19077.hp2
NA19084.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.898+2040C>A
c.898+2040C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78953255
chr5:78953349 A
A
 G
G
 155 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(152): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0261
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0006g0267
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0003g0095
a0005c0016t0002g0237
a0007c0012t0032g0180
 155 HG00099.hp1
HG00140.hp2
HG00323.hp2
others(152): Show 
HG00099.hp1
HG00140.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01257.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01943.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02293.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03710.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
NA18612.hp1
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp2
NA19084.hp2
NA19085.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.898+1946T>C
c.898+1946T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78953349
chr5:78953399 G
G
 C
C
 155 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(152): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0261
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0006g0267
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0003g0095
a0005c0016t0002g0237
a0007c0012t0032g0180
 155 HG00099.hp1
HG00140.hp2
HG00323.hp2
others(152): Show 
HG00099.hp1
HG00140.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01257.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01943.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02293.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03710.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
NA18612.hp1
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp2
NA19084.hp2
NA19085.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.898+1896C>G
c.898+1896C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78953399
chr5:78953612 A
A
 G
G
 3 a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
 3 HG01496.hp1
HG02896.hp1
HG03225.hp1
HG01496.hp1
HG02896.hp1
HG03225.hp1
 intron_variant MODIFIER c.898+1683T>C
c.898+1683T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78953612
chr5:78953860 T
T
 A
A
 16 a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0001t0044g0091
others(13): Show 
a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0089
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0007t0036g0259
 16 HG00741.hp1
HG01243.hp1
HG01884.hp1
others(13): Show 
HG00741.hp1
HG01243.hp1
HG01884.hp1
HG02258.hp2
HG02559.hp2
HG02622.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG03195.hp1
HG03516.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.898+1435A>T
c.898+1435A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78953860
chr5:78953964 C
C
 T
T
 155 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(152): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0261
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0006g0267
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0003g0095
a0005c0016t0002g0237
a0007c0012t0032g0180
 155 HG00099.hp1
HG00140.hp2
HG00323.hp2
others(152): Show 
HG00099.hp1
HG00140.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01257.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01943.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02293.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03710.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
NA18612.hp1
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp2
NA19084.hp2
NA19085.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.898+1331G>A
c.898+1331G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78953964
chr5:78954105 A
A
 G
G
 155 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(152): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0261
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0006g0267
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0003g0095
a0005c0016t0002g0237
a0007c0012t0032g0180
 155 HG00099.hp1
HG00140.hp2
HG00323.hp2
others(152): Show 
HG00099.hp1
HG00140.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01257.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01943.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02293.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03710.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
NA18612.hp1
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp2
NA19084.hp2
NA19085.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.898+1190T>C
c.898+1190T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78954105
chr5:78954118 G
G
 A
A
 152 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(149): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0261
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0006g0267
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0073g0099
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0003g0095
a0005c0016t0002g0237
a0007c0012t0032g0180
 152 HG00099.hp1
HG00140.hp2
HG00323.hp2
others(149): Show 
HG00099.hp1
HG00140.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01257.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01943.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02293.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03710.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp2
NA19084.hp2
NA19085.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.898+1177C>T
c.898+1177C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78954118
chr5:78954310 C
C
 T
T
 66 a0001c0001t0002g0261
a0001c0003t0002g0160
a0001c0003t0002g0269
others(63): Show 
a0001c0001t0002g0261
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0006g0212
a0001c0003t0006g0267
a0001c0003t0010g0157
a0001c0003t0041g0155
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
 66 HG00099.hp1
HG00140.hp2
HG00323.hp2
others(63): Show 
HG00099.hp1
HG00140.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02293.hp2
HG02698.hp1
HG02717.hp1
HG03041.hp1
HG03130.hp1
HG03669.hp2
HG03710.hp1
HG04115.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.898+985G>A
c.898+985G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78954310
chr5:78954360 G
G
 C
C
 1 a0001c0007t0004g0100
a0001c0007t0004g0100
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.898+935C>G
c.898+935C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78954360
chr5:78954372 C
C
 T
T
 152 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(149): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0261
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0006g0267
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0073g0099
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0003g0095
a0005c0016t0002g0237
a0007c0012t0032g0180
 152 HG00099.hp1
HG00140.hp2
HG00323.hp2
others(149): Show 
HG00099.hp1
HG00140.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01257.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01943.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02293.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03710.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp2
NA19084.hp2
NA19085.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.898+923G>A
c.898+923G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78954372
chr5:78954516 T
T
 C
C
 83 a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0003g0019
others(80): Show 
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0140
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0004g0083
a0001c0001t0005g0038
a0001c0001t0008g0131
a0001c0001t0010g0141
a0001c0001t0011g0046
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0037g0059
a0001c0003t0002g0253
a0001c0003t0058g0045
a0001c0005t0075g0112
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
 84 HG00099.hp2
HG00280.hp2
HG00323.hp1
others(81): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01175.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01517.hp2
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02647.hp2
HG02683.hp1
HG02735.hp2
HG02886.hp2
HG02976.hp1
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp2
HG04184.hp1
NA18612.hp2
NA18747.hp1
NA18947.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18972.hp1
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19043.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp1
 intron_variant MODIFIER c.898+779A>G
c.898+779A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78954516
chr5:78954597 T
T
 C
C
 1 a0001c0001t0001g0035
a0001c0001t0001g0035
 1 NA18957.hp1
NA18957.hp1
 intron_variant MODIFIER c.898+698A>G
c.898+698A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78954597
chr5:78954653 C
C
 T
T
 92 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(89): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0261
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0267
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0073g0099
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0002t0064g0285
a0002c0013t0017g0015
a0003c0004t0003g0095
a0005c0016t0002g0237
a0007c0012t0032g0180
 92 HG00544.hp2
HG00741.hp1
HG01069.hp1
others(89): Show 
HG00544.hp2
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01943.hp2
HG01981.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG03017.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.898+642G>A
c.898+642G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78954653
chr5:78954654 G
G
 A
A
 1 a0001c0001t0002g0218
a0001c0001t0002g0218
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.898+641C>T
c.898+641C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78954654
chr5:78954661 T
T
 A
A
 1 a0005c0016t0002g0237
a0005c0016t0002g0237
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.898+634A>T
c.898+634A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78954661
chr5:78954666 G
G
 A
A
 1 a0002c0002t0002g0314
a0002c0002t0002g0314
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.898+629C>T
c.898+629C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78954666
chr5:78954695 A
A
 G
G
 153 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(150): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0261
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0269
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0006g0267
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0073g0099
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0003g0095
a0005c0016t0002g0237
a0007c0012t0032g0180
 153 HG00099.hp1
HG00140.hp2
HG00323.hp2
others(150): Show 
HG00099.hp1
HG00140.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01257.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01943.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02293.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03710.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp2
NA19084.hp2
NA19085.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.898+600T>C
c.898+600T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78954695
chr5:78954747 C
C
 T
T
 21 a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0270
others(18): Show 
a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0008t0002g0120
a0001c0008t0008g0118
 21 HG00733.hp1
HG01168.hp2
HG01243.hp2
others(18): Show 
HG00733.hp1
HG01168.hp2
HG01243.hp2
HG01891.hp1
HG02055.hp1
HG02451.hp2
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
NA18906.hp2
NA19240.hp2
 intron_variant MODIFIER c.898+548G>A
c.898+548G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78954747
chr5:78954771 C
C
 T
T
 152 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(149): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0261
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0006g0267
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0073g0099
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0003g0095
a0005c0016t0002g0237
a0007c0012t0032g0180
 152 HG00099.hp1
HG00140.hp2
HG00323.hp2
others(149): Show 
HG00099.hp1
HG00140.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01257.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01943.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02293.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03710.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp2
NA19084.hp2
NA19085.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.898+524G>A
c.898+524G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78954771
chr5:78954795 G
G
 A
A
 1 a0002c0002t0071g0280
a0002c0002t0071g0280
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.898+500C>T
c.898+500C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78954795
chr5:78954800 C
C
 T
T
 92 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(89): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0261
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0267
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0073g0099
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0002t0064g0285
a0002c0013t0017g0015
a0003c0004t0003g0095
a0005c0016t0002g0237
a0007c0012t0032g0180
 92 HG00544.hp2
HG00741.hp1
HG01069.hp1
others(89): Show 
HG00544.hp2
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01943.hp2
HG01981.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG03017.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.898+495G>A
c.898+495G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78954800
chr5:78954896 T
T
 A
A
 1 a0001c0001t0003g0019
a0001c0001t0003g0019
 1 NA19088.hp2
NA19088.hp2
 intron_variant MODIFIER c.898+399A>T
c.898+399A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78954896
chr5:78954899 G
G
 A
A
 5 a0001c0001t0002g0005
a0001c0001t0004g0009
a0001c0001t0006g0219
others(2): Show 
a0001c0001t0002g0005
a0001c0001t0004g0009
a0001c0001t0006g0219
a0001c0003t0012g0166
a0001c0003t0018g0057
 5 HG01109.hp2
HG03098.hp2
HG03209.hp2
others(2): Show 
HG01109.hp2
HG03098.hp2
HG03209.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.898+396C>T
c.898+396C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 4/7 chr5 78954899
chr5:78955524 A
A
 G
G
 29 a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
others(26): Show 
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0209
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0007g0333
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0320
a0001c0003t0002g0342
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0015g0346
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0007t0004g0100
a0001c0021t0003g0358
a0002c0002t0064g0285
a0007c0012t0032g0180
 29 HG00544.hp2
HG01069.hp1
HG01074.hp1
others(26): Show 
HG00544.hp2
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01261.hp2
HG01346.hp1
HG01943.hp2
HG01981.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp1
HG02738.hp1
HG03490.hp1
HG03491.hp1
HG03540.hp2
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19074.hp1
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.691-22T>C
c.691-22T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78955524
chr5:78955669 AATAT
AATAT
 A
A
 21 a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0270
others(18): Show 
a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0008t0002g0120
a0001c0008t0008g0118
 21 HG00733.hp1
HG01168.hp2
HG01243.hp2
others(18): Show 
HG00733.hp1
HG01168.hp2
HG01243.hp2
HG01891.hp1
HG02055.hp1
HG02451.hp2
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
NA18906.hp2
NA19240.hp2
 intron_variant MODIFIER c.691-171_691-168del
others(4): Show 
c.691-171_691-168delATAT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78955669
chr5:78955688 C
C
 T
T
 30 a0001c0001t0002g0039
a0001c0001t0003g0140
a0001c0001t0004g0083
others(27): Show 
a0001c0001t0002g0039
a0001c0001t0003g0140
a0001c0001t0004g0083
a0001c0001t0005g0038
a0001c0001t0010g0141
a0001c0003t0002g0253
a0001c0005t0075g0112
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
 31 HG00099.hp2
HG00280.hp2
HG00423.hp1
others(28): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01257.hp2
HG01258.hp2
HG01361.hp1
HG01433.hp2
HG01952.hp2
HG01993.hp2
HG02129.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02647.hp2
HG02683.hp1
HG02735.hp2
HG02886.hp2
HG02976.hp1
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
NA19043.hp1
NA19088.hp1
 intron_variant MODIFIER c.691-186G>A
c.691-186G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78955688
chr5:78955753 T
T
 C
C
 1 a0001c0001t0040g0288
a0001c0001t0040g0288
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.691-251A>G
c.691-251A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78955753
chr5:78955767 TAAA
TAAA
 T
T
 3 a0001c0001t0001g0135
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0001g0135
a0001c0001t0010g0107
a0001c0001t0010g0147
 3 HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp1
 intron_variant MODIFIER c.691-268_691-266del
others(3): Show 
c.691-268_691-266delTTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78955767
chr5:78955771 C
C
 G
G
 3 a0001c0001t0001g0135
a0001c0001t0010g0107
a0001c0001t0010g0147
a0001c0001t0001g0135
a0001c0001t0010g0107
a0001c0001t0010g0147
 3 HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp1
 intron_variant MODIFIER c.691-269G>C
c.691-269G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78955771
chr5:78955962 T
T
 C
C
 45 a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
others(42): Show 
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0209
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0320
a0001c0003t0002g0342
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0232
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0021t0003g0358
a0002c0002t0064g0285
a0007c0012t0032g0180
 45 HG00544.hp2
HG00741.hp1
HG01069.hp1
others(42): Show 
HG00544.hp2
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01943.hp2
HG01981.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp1
HG02258.hp2
HG02559.hp2
HG02622.hp1
HG02723.hp2
HG02738.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG03195.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp2
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19030.hp1
NA19063.hp1
NA19074.hp1
NA19085.hp1
NA20300.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.691-460A>G
c.691-460A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78955962
chr5:78956068 T
T
 C
C
 2 a0001c0001t0007g0115
a0001c0001t0031g0324
a0001c0001t0007g0115
a0001c0001t0031g0324
 2 HG02809.hp1
HG03130.hp2
HG02809.hp1
HG03130.hp2
 intron_variant MODIFIER c.691-566A>G
c.691-566A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78956068
chr5:78956160 G
G
 T
T
 1 a0001c0001t0002g0005
a0001c0001t0002g0005
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.691-658C>A
c.691-658C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78956160
chr5:78956292 T
T
 C
C
 45 a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
others(42): Show 
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0209
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0320
a0001c0003t0002g0342
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0232
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0021t0003g0358
a0002c0002t0064g0285
a0007c0012t0032g0180
 45 HG00544.hp2
HG00741.hp1
HG01069.hp1
others(42): Show 
HG00544.hp2
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01943.hp2
HG01981.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp1
HG02258.hp2
HG02559.hp2
HG02622.hp1
HG02723.hp2
HG02738.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG03195.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp2
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19030.hp1
NA19063.hp1
NA19074.hp1
NA19085.hp1
NA20300.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.691-790A>G
c.691-790A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78956292
chr5:78956365 T
T
 A
A
 1 a0001c0001t0001g0110
a0001c0001t0001g0110
 1 NA19062.hp1
NA19062.hp1
 intron_variant MODIFIER c.691-863A>T
c.691-863A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78956365
chr5:78956378 T
T
 C
C
 7 a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0001t0044g0091
others(4): Show 
a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0002g0078
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0089
 7 HG00741.hp1
HG01243.hp1
HG02258.hp2
others(4): Show 
HG00741.hp1
HG01243.hp1
HG02258.hp2
HG02723.hp2
HG02896.hp2
HG02897.hp2
NA19030.hp1
 intron_variant MODIFIER c.691-876A>G
c.691-876A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78956378
chr5:78956412 T
T
 G
G
 1 a0001c0003t0001g0344
a0001c0003t0001g0344
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.691-910A>C
c.691-910A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78956412
chr5:78956427 C
C
 A
A
 45 a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
others(42): Show 
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0209
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0320
a0001c0003t0002g0342
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0232
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0021t0003g0358
a0002c0002t0064g0285
a0007c0012t0032g0180
 45 HG00544.hp2
HG00741.hp1
HG01069.hp1
others(42): Show 
HG00544.hp2
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01943.hp2
HG01981.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp1
HG02258.hp2
HG02559.hp2
HG02622.hp1
HG02723.hp2
HG02738.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG03195.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp2
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19030.hp1
NA19063.hp1
NA19074.hp1
NA19085.hp1
NA20300.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.691-925G>T
c.691-925G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78956427
chr5:78956505 T
T
 G
G
 4 a0001c0003t0002g0342
a0001c0003t0007g0132
a0001c0003t0025g0341
others(1): Show 
a0001c0003t0002g0342
a0001c0003t0007g0132
a0001c0003t0025g0341
a0002c0002t0064g0285
 4 HG01167.hp2
HG01192.hp1
HG01192.hp2
others(1): Show 
HG01167.hp2
HG01192.hp1
HG01192.hp2
NA20752.hp2
 intron_variant MODIFIER c.691-1003A>C
c.691-1003A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78956505
chr5:78956637 C
C
 A
A
 1 a0001c0003t0002g0276
a0001c0003t0002g0276
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.691-1135G>T
c.691-1135G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78956637
chr5:78956699 C
C
 T
T
 257 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(254): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0261
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0140
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0005g0038
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0131
a0001c0001t0009g0226
a0001c0001t0010g0141
a0001c0001t0010g0264
a0001c0001t0011g0046
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
a0005c0016t0002g0237
a0007c0012t0032g0180
 258 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(255): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp2
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18993.hp2
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19062.hp2
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.691-1197G>A
c.691-1197G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78956699
chr5:78956806 C
C
 T
T
 52 a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
others(49): Show 
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0209
a0001c0001t0004g0009
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0320
a0001c0003t0002g0342
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0021t0003g0358
a0002c0002t0064g0285
a0007c0012t0032g0180
 52 HG00544.hp2
HG00741.hp1
HG01069.hp1
others(49): Show 
HG00544.hp2
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01943.hp2
HG01981.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp1
HG02258.hp2
HG02559.hp2
HG02622.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp2
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19030.hp1
NA19063.hp1
NA19074.hp1
NA19085.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.691-1304G>A
c.691-1304G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78956806
chr5:78956847 G
G
 T
T
 80 a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0003g0019
others(77): Show 
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0140
a0001c0001t0004g0083
a0001c0001t0005g0038
a0001c0001t0008g0131
a0001c0001t0010g0141
a0001c0001t0011g0046
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0003t0002g0253
a0001c0003t0058g0045
a0001c0005t0075g0112
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
 81 HG00099.hp2
HG00280.hp2
HG00323.hp1
others(78): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01517.hp2
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02647.hp2
HG02683.hp1
HG02735.hp2
HG02886.hp2
HG02976.hp1
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp2
HG04184.hp1
NA18612.hp2
NA18747.hp1
NA18947.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18972.hp1
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19043.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp1
 intron_variant MODIFIER c.691-1345C>A
c.691-1345C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78956847
chr5:78956958 A
A
 T
T
 1 a0001c0001t0001g0027
a0001c0001t0001g0027
 1 NA18992.hp2
NA18992.hp2
 intron_variant MODIFIER c.691-1456T>A
c.691-1456T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78956958
chr5:78957029 A
A
 ACACACTG
others(63): Show 
ACACACTGATTCTATTTTACCACTTACATCAATTTGCAACATTTAACATT
AGTGGCATACCAGGTCAGCTT
 5 a0002c0002t0005g0192
a0002c0002t0006g0191
a0002c0002t0006g0211
others(2): Show 
a0002c0002t0005g0192
a0002c0002t0006g0191
a0002c0002t0006g0211
a0002c0002t0009g0193
a0002c0002t0009g0194
 5 HG01346.hp2
HG01975.hp2
HG02004.hp1
others(2): Show 
HG01346.hp2
HG01975.hp2
HG02004.hp1
HG02293.hp2
NA20300.hp2
 intron_variant MODIFIER c.691-1597_691-1528d
others(72): Show 
c.691-1597_691-1528dupAAGCTGACCTGGTATGCCACTAATGTTA
AATGTTGCAAATTGATGTAAGTGGTAAAATAGAATCAGTGTG
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78957029
chr5:78957299 A
A
 G
G
 152 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(149): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0261
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0006g0267
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0073g0099
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0003g0095
a0005c0016t0002g0237
a0007c0012t0032g0180
 152 HG00099.hp1
HG00140.hp2
HG00323.hp2
others(149): Show 
HG00099.hp1
HG00140.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01257.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01943.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02293.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03710.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp2
NA19084.hp2
NA19085.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.691-1797T>C
c.691-1797T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78957299
chr5:78957322 A
A
 G
G
 2 a0001c0001t0001g0031
a0001c0001t0001g0110
a0001c0001t0001g0031
a0001c0001t0001g0110
 2 NA18983.hp1
NA19062.hp1
NA18983.hp1
NA19062.hp1
 intron_variant MODIFIER c.691-1820T>C
c.691-1820T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78957322
chr5:78957380 T
T
 C
C
 4 a0001c0001t0004g0278
a0001c0003t0006g0103
a0001c0015t0027g0102
others(1): Show 
a0001c0001t0004g0278
a0001c0003t0006g0103
a0001c0015t0027g0102
a0005c0016t0002g0237
 4 HG02055.hp2
HG02622.hp2
HG02809.hp2
others(1): Show 
HG02055.hp2
HG02622.hp2
HG02809.hp2
HG02922.hp2
 intron_variant MODIFIER c.691-1878A>G
c.691-1878A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78957380
chr5:78957520 C
C
 G
G
 258 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(255): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0261
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0140
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0005g0038
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0131
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0141
a0001c0001t0010g0264
a0001c0001t0011g0046
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
a0005c0016t0002g0237
a0007c0012t0032g0180
 259 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(256): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp2
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18993.hp2
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19062.hp2
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.691-2018G>C
c.691-2018G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78957520
chr5:78957641 C
C
 G
G
 47 a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
others(44): Show 
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0209
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0320
a0001c0003t0002g0342
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0232
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0021t0003g0358
a0002c0002t0064g0285
a0007c0012t0032g0180
 47 HG00544.hp2
HG00741.hp1
HG01069.hp1
others(44): Show 
HG00544.hp2
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01943.hp2
HG01981.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp1
HG02258.hp2
HG02559.hp2
HG02622.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG03130.hp2
HG03195.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp2
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19030.hp1
NA19063.hp1
NA19074.hp1
NA19085.hp1
NA20300.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.691-2139G>C
c.691-2139G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78957641
chr5:78957726 G
G
 C
C
 53 a0001c0001t0001g0315
a0001c0001t0003g0019
a0001c0001t0003g0021
others(50): Show 
a0001c0001t0001g0315
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0008g0131
a0001c0001t0008g0297
a0001c0001t0011g0046
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0003t0058g0045
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0003g0283
a0003c0004t0011g0007
a0003c0004t0033g0282
a0004c0006t0016g0163
 53 HG00280.hp1
HG00323.hp1
HG00408.hp1
others(50): Show 
HG00280.hp1
HG00323.hp1
HG00408.hp1
HG00544.hp1
HG00558.hp2
HG01070.hp2
HG01071.hp1
HG01255.hp2
HG01358.hp2
HG01515.hp1
HG01517.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG03834.hp1
HG03927.hp1
HG03942.hp2
HG04184.hp1
NA18612.hp2
NA18747.hp1
NA18947.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18972.hp1
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp2
NA20752.hp1
NA20805.hp1
 intron_variant MODIFIER c.691-2224C>G
c.691-2224C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78957726
chr5:78957773 T
T
 C
C
 208 a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0001g0321
others(205): Show 
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0209
a0001c0001t0002g0261
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0140
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0004g0009
a0001c0001t0004g0083
a0001c0001t0005g0038
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0131
a0001c0001t0008g0297
a0001c0001t0010g0141
a0001c0001t0011g0046
a0001c0001t0018g0130
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0342
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0212
a0001c0003t0006g0267
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0232
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0005t0075g0112
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
a0007c0012t0032g0180
 209 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(206): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01943.hp2
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18972.hp1
NA18975.hp1
NA18978.hp1
NA18979.hp1
NA18984.hp2
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18989.hp2
NA18992.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19030.hp1
NA19043.hp1
NA19057.hp2
NA19062.hp2
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.691-2271A>G
c.691-2271A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78957773
chr5:78957777 T
T
 C
C
 4 a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0003t0009g0281
others(1): Show 
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0003t0009g0281
a0001c0007t0068g0111
 4 HG02040.hp2
HG02976.hp2
HG03041.hp2
others(1): Show 
HG02040.hp2
HG02976.hp2
HG03041.hp2
HG03516.hp2
 intron_variant MODIFIER c.691-2275A>G
c.691-2275A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78957777
chr5:78957911 G
G
 T
T
 2 a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0003t0073g0099
a0001c0005t0036g0275
 2 HG02615.hp2
HG03540.hp1
HG02615.hp2
HG03540.hp1
 intron_variant MODIFIER c.691-2409C>A
c.691-2409C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78957911
chr5:78957921 T
T
 TAAAAATC
others(313): Show 
TAAAAATCGGAAGTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG
CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC
ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT
AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA
GGCAAGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGG
TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA
AAAAAAAAAAAAAAAAAAAAA
 3 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
 3 NA18947.hp1
NA18962.hp1
NA19010.hp1
NA18947.hp1
NA18962.hp1
NA19010.hp1
 intron_variant MODIFIER c.691-2420_691-2419i
others(322): Show 
c.691-2420_691-2419insTTTTTTTTTTTTTTTTTTTTTTTTGAGA
CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGACCTCGGC
TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCTTGCCTCAGCCT
CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT
TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG
ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT
TACAGGCGTGAGCCACCGCGCCCGGCCAGACTTCCGATTTTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78957921
chr5:78957921 T
T
 TAAAAATC
others(314): Show 
TAAAAATCGGAAGTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG
CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC
ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT
AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA
GGCAAGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGG
TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA
AAAAAAAAAAAAAAAAAAAAAA
 2 a0001c0003t0003g0050
a0001c0003t0005g0060
a0001c0003t0003g0050
a0001c0003t0005g0060
 2 NA18988.hp1
NA19000.hp2
NA18988.hp1
NA19000.hp2
 intron_variant MODIFIER c.691-2420_691-2419i
others(323): Show 
c.691-2420_691-2419insTTTTTTTTTTTTTTTTTTTTTTTTTGAG
ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGACCTCGG
CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCTTGCCTCAGCC
TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT
TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC
GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA
TTACAGGCGTGAGCCACCGCGCCCGGCCAGACTTCCGATTTTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78957921
chr5:78957921 T
T
 TAAAAATC
others(312): Show 
TAAAAATCGGAAGTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG
CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC
ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT
AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA
GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGG
TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA
AAAAAAAAAAAAAAAAAAAA
 1 a0001c0001t0007g0333
a0001c0001t0007g0333
 1 HG01943.hp2
HG01943.hp2
 intron_variant MODIFIER c.691-2420_691-2419i
others(321): Show 
c.691-2420_691-2419insTTTTTTTTTTTTTTTTTTTTTTTGAGAC
GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGACCTCGGCT
CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC
CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT
GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA
TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT
ACAGGCGTGAGCCACCGCGCCCGGCCAGACTTCCGATTTTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78957921
chr5:78957921 T
T
 TAAAAATC
others(313): Show 
TAAAAATCGGAAGTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG
CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC
ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT
AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA
GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGG
TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA
AAAAAAAAAAAAAAAAAAAAA
 11 a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0005g0195
others(8): Show 
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0059g0332
a0001c0003t0001g0344
a0001c0003t0002g0320
a0001c0003t0003g0334
a0001c0003t0025g0341
a0001c0003t0046g0343
a0001c0007t0004g0100
 11 HG01069.hp1
HG01167.hp2
HG01261.hp2
others(8): Show 
HG01069.hp1
HG01167.hp2
HG01261.hp2
HG01346.hp1
HG02071.hp1
HG02074.hp1
HG02155.hp1
HG03540.hp2
HG04204.hp2
NA19074.hp1
NA19085.hp1
 intron_variant MODIFIER c.691-2420_691-2419i
others(322): Show 
c.691-2420_691-2419insTTTTTTTTTTTTTTTTTTTTTTTTGAGA
CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGACCTCGGC
TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT
CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT
TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG
ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT
TACAGGCGTGAGCCACCGCGCCCGGCCAGACTTCCGATTTTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78957921
chr5:78957921 T
T
 TAAAAATC
others(314): Show 
TAAAAATCGGAAGTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG
CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC
ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT
AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA
GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGG
TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA
AAAAAAAAAAAAAAAAAAAAAA
 12 a0001c0001t0001g0335
a0001c0001t0002g0209
a0001c0003t0001g0326
others(9): Show 
a0001c0001t0001g0335
a0001c0001t0002g0209
a0001c0003t0001g0326
a0001c0003t0002g0342
a0001c0003t0007g0132
a0001c0003t0015g0346
a0001c0003t0022g0229
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0021t0003g0358
a0002c0002t0064g0285
a0007c0012t0032g0180
 12 HG00544.hp2
HG01074.hp1
HG01192.hp1
others(9): Show 
HG00544.hp2
HG01074.hp1
HG01192.hp1
HG01192.hp2
HG01981.hp2
HG02132.hp1
HG02738.hp1
HG03490.hp1
HG03491.hp1
NA19063.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.691-2420_691-2419i
others(323): Show 
c.691-2420_691-2419insTTTTTTTTTTTTTTTTTTTTTTTTTGAG
ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGACCTCGG
CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC
TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT
TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC
GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA
TTACAGGCGTGAGCCACCGCGCCCGGCCAGACTTCCGATTTTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78957921
chr5:78957965 TA
TA
 T
T
 147 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(144): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0261
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0006g0267
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0073g0099
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0003g0095
a0005c0016t0002g0237
a0007c0012t0032g0180
 147 HG00099.hp1
HG00140.hp2
HG00323.hp2
others(144): Show 
HG00099.hp1
HG00140.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01257.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01943.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02293.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03225.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03710.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp2
NA19084.hp2
NA19085.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.691-2464delT
c.691-2464delT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78957965
chr5:78957990 C
C
 A
A
 5 a0001c0003t0006g0267
a0001c0009t0016g0271
a0001c0009t0016g0272
others(2): Show 
a0001c0003t0006g0267
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
 5 HG01884.hp2
HG01891.hp2
HG02145.hp1
others(2): Show 
HG01884.hp2
HG01891.hp2
HG02145.hp1
HG03130.hp1
NA19240.hp1
 intron_variant MODIFIER c.691-2488G>T
c.691-2488G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78957990
chr5:78958361 T
T
 G
G
 1 a0001c0003t0002g0276
a0001c0003t0002g0276
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.691-2859A>C
c.691-2859A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78958361
chr5:78958404 C
C
 G
G
 173 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(170): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0261
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0003g0095
a0005c0016t0002g0237
a0007c0012t0032g0180
 173 HG00099.hp1
HG00140.hp2
HG00323.hp2
others(170): Show 
HG00099.hp1
HG00140.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03710.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
NA18612.hp1
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp2
NA19084.hp2
NA19085.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.691-2902G>C
c.691-2902G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78958404
chr5:78958428 G
G
 A
A
 30 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0005
others(27): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0005
a0001c0001t0002g0201
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0006g0219
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0338
a0001c0003t0006g0103
a0001c0003t0012g0166
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0015t0027g0102
a0002c0002t0001g0345
a0003c0004t0003g0095
a0005c0016t0002g0237
 30 HG01109.hp2
HG02055.hp2
HG02056.hp2
others(27): Show 
HG01109.hp2
HG02055.hp2
HG02056.hp2
HG02135.hp1
HG02155.hp2
HG02615.hp2
HG02622.hp2
HG02683.hp2
HG02809.hp2
HG02922.hp2
HG03017.hp2
HG03098.hp2
HG03209.hp2
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG04115.hp2
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA19011.hp2
NA19077.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.691-2926C>T
c.691-2926C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78958428
chr5:78958436 A
A
 T
T
 5 a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
others(2): Show 
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0003g0050
a0001c0003t0005g0060
 5 NA18947.hp1
NA18962.hp1
NA18988.hp1
others(2): Show 
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
 intron_variant MODIFIER c.691-2934T>A
c.691-2934T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78958436
chr5:78958453 T
T
 C
C
 104 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(101): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0005c0016t0002g0237
a0007c0012t0032g0180
 104 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(101): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.691-2951A>G
c.691-2951A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78958453
chr5:78958596 T
T
 G
G
 104 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(101): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0005c0016t0002g0237
a0007c0012t0032g0180
 104 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(101): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.691-3094A>C
c.691-3094A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78958596
chr5:78958658 G
G
 A
A
 1 a0001c0005t0076g0268
a0001c0005t0076g0268
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.691-3156C>T
c.691-3156C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78958658
chr5:78958664 T
T
 G
G
 66 a0001c0001t0002g0261
a0001c0003t0002g0160
a0001c0003t0002g0269
others(63): Show 
a0001c0001t0002g0261
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0006g0212
a0001c0003t0006g0267
a0001c0003t0010g0157
a0001c0003t0041g0155
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
 66 HG00099.hp1
HG00140.hp2
HG00323.hp2
others(63): Show 
HG00099.hp1
HG00140.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02293.hp2
HG02698.hp1
HG02717.hp1
HG03041.hp1
HG03130.hp1
HG03669.hp2
HG03710.hp1
HG04115.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.691-3162A>C
c.691-3162A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78958664
chr5:78958685 A
A
 T
T
 21 a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0270
others(18): Show 
a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0008t0002g0120
a0001c0008t0008g0118
 21 HG00733.hp1
HG01168.hp2
HG01243.hp2
others(18): Show 
HG00733.hp1
HG01168.hp2
HG01243.hp2
HG01891.hp1
HG02055.hp1
HG02451.hp2
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
NA18906.hp2
NA19240.hp2
 intron_variant MODIFIER c.691-3183T>A
c.691-3183T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78958685
chr5:78958735 G
G
 C
C
 1 a0001c0001t0005g0172
a0001c0001t0005g0172
 1 HG00408.hp2
HG00408.hp2
 intron_variant MODIFIER c.691-3233C>G
c.691-3233C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78958735
chr5:78958807 T
T
 C
C
 16 a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0001t0044g0091
others(13): Show 
a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0089
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0007t0036g0259
 16 HG00741.hp1
HG01243.hp1
HG01884.hp1
others(13): Show 
HG00741.hp1
HG01243.hp1
HG01884.hp1
HG02258.hp2
HG02559.hp2
HG02622.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG03195.hp1
HG03516.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.691-3305A>G
c.691-3305A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78958807
chr5:78958837 C
C
 CA
CA
 100 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(97): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 100 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(97): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.691-3336dupT
c.691-3336dupT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78958837
chr5:78958867 T
T
 C
C
 1 a0001c0001t0008g0279
a0001c0001t0008g0279
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.691-3365A>G
c.691-3365A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78958867
chr5:78958982 C
C
 T
T
 100 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(97): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 100 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(97): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.691-3480G>A
c.691-3480G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78958982
chr5:78958996 T
T
 C
C
 1 a0001c0001t0008g0279
a0001c0001t0008g0279
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.691-3494A>G
c.691-3494A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78958996
chr5:78959161 G
G
 A
A
 1 a0001c0003t0006g0254
a0001c0003t0006g0254
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.691-3659C>T
c.691-3659C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78959161
chr5:78959178 C
C
 T
T
 100 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(97): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 100 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(97): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.691-3676G>A
c.691-3676G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78959178
chr5:78959181 T
T
 G
G
 2 a0001c0003t0027g0114
a0001c0017t0002g0088
a0001c0003t0027g0114
a0001c0017t0002g0088
 2 HG02572.hp2
HG02886.hp1
HG02572.hp2
HG02886.hp1
 intron_variant MODIFIER c.691-3679A>C
c.691-3679A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78959181
chr5:78959196 G
G
 C
C
 6 a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0035g0357
others(3): Show 
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0035g0357
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0022t0006g0359
 6 HG02258.hp1
HG02451.hp1
HG02559.hp1
others(3): Show 
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02723.hp1
HG02965.hp1
NA19043.hp2
 intron_variant MODIFIER c.691-3694C>G
c.691-3694C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78959196
chr5:78959238 C
C
 T
T
 3 a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
 3 HG01496.hp1
HG02896.hp1
HG03225.hp1
HG01496.hp1
HG02896.hp1
HG03225.hp1
 intron_variant MODIFIER c.691-3736G>A
c.691-3736G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78959238
chr5:78959255 T
T
 C
C
 2 a0001c0001t0003g0327
a0001c0001t0004g0330
a0001c0001t0003g0327
a0001c0001t0004g0330
 2 HG00621.hp2
HG02071.hp2
HG00621.hp2
HG02071.hp2
 intron_variant MODIFIER c.691-3753A>G
c.691-3753A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78959255
chr5:78959272 C
C
 G
G
 3 a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
 3 HG02055.hp1
NA18906.hp2
NA19240.hp2
HG02055.hp1
NA18906.hp2
NA19240.hp2
 intron_variant MODIFIER c.691-3770G>C
c.691-3770G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78959272
chr5:78959340 CT
CT
 C
C
 99 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(96): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 99 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(96): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.691-3839delA
c.691-3839delA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78959340
chr5:78959414 G
G
 A
A
 19 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0201
others(16): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0201
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0338
a0001c0003t0014g0220
a0002c0002t0001g0345
a0003c0004t0003g0095
 19 HG02056.hp2
HG02135.hp1
HG02155.hp2
others(16): Show 
HG02056.hp2
HG02135.hp1
HG02155.hp2
HG02683.hp2
HG03017.hp2
HG03491.hp2
HG03492.hp2
HG04115.hp2
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA19011.hp2
NA19077.hp2
 intron_variant MODIFIER c.691-3912C>T
c.691-3912C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78959414
chr5:78959421 T
T
 C
C
 2 a0001c0001t0001g0315
a0001c0001t0003g0019
a0001c0001t0001g0315
a0001c0001t0003g0019
 2 NA18950.hp2
NA19088.hp2
NA18950.hp2
NA19088.hp2
 intron_variant MODIFIER c.691-3919A>G
c.691-3919A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78959421
chr5:78959844 T
T
 C
C
 1 a0002c0002t0057g0284
a0002c0002t0057g0284
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.691-4342A>G
c.691-4342A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78959844
chr5:78959904 T
T
 G
G
 100 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(97): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 100 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(97): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.691-4402A>C
c.691-4402A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78959904
chr5:78959942 T
T
 G
G
 2 a0001c0001t0007g0115
a0001c0001t0031g0324
a0001c0001t0007g0115
a0001c0001t0031g0324
 2 HG02809.hp1
HG03130.hp2
HG02809.hp1
HG03130.hp2
 intron_variant MODIFIER c.691-4440A>C
c.691-4440A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78959942
chr5:78959965 C
C
 G
G
 1 a0001c0001t0002g0092
a0001c0001t0002g0092
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.690+4451G>C
c.690+4451G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78959965
chr5:78960052 C
C
 G
G
 100 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(97): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 100 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(97): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.690+4364G>C
c.690+4364G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78960052
chr5:78960165 T
T
 C
C
 45 a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
others(42): Show 
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0209
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0320
a0001c0003t0002g0342
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0232
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0021t0003g0358
a0002c0002t0064g0285
a0007c0012t0032g0180
 45 HG00544.hp2
HG00741.hp1
HG01069.hp1
others(42): Show 
HG00544.hp2
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01943.hp2
HG01981.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp1
HG02258.hp2
HG02559.hp2
HG02622.hp1
HG02723.hp2
HG02738.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG03195.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp2
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19030.hp1
NA19063.hp1
NA19074.hp1
NA19085.hp1
NA20300.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.690+4251A>G
c.690+4251A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78960165
chr5:78960178 A
A
 G
G
 2 a0001c0001t0002g0005
a0001c0003t0012g0166
a0001c0001t0002g0005
a0001c0003t0012g0166
 2 HG01109.hp2
NA21309.hp1
HG01109.hp2
NA21309.hp1
 intron_variant MODIFIER c.690+4238T>C
c.690+4238T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78960178
chr5:78960287 C
C
 T
T
 7 a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0001t0044g0091
others(4): Show 
a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0002g0078
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0089
 7 HG00741.hp1
HG01243.hp1
HG02258.hp2
others(4): Show 
HG00741.hp1
HG01243.hp1
HG02258.hp2
HG02723.hp2
HG02896.hp2
HG02897.hp2
NA19030.hp1
 intron_variant MODIFIER c.690+4129G>A
c.690+4129G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78960287
chr5:78960332 C
C
 T
T
 1 a0001c0003t0006g0254
a0001c0003t0006g0254
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.690+4084G>A
c.690+4084G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78960332
chr5:78960370 GA
GA
 G
G
 100 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(97): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 100 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(97): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.690+4045delT
c.690+4045delT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78960370
chr5:78960476 A
A
 T
T
 6 a0001c0003t0002g0270
a0001c0003t0008g0116
a0001c0003t0031g0119
others(3): Show 
a0001c0003t0002g0270
a0001c0003t0008g0116
a0001c0003t0031g0119
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
 6 HG01243.hp2
HG02615.hp1
HG02717.hp2
others(3): Show 
HG01243.hp2
HG02615.hp1
HG02717.hp2
HG02965.hp2
HG03209.hp1
HG03486.hp1
 intron_variant MODIFIER c.690+3940T>A
c.690+3940T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78960476
chr5:78960580 T
T
 C
C
 100 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(97): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 100 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(97): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.690+3836A>G
c.690+3836A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78960580
chr5:78960637 C
C
 T
T
 45 a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
others(42): Show 
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0209
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0320
a0001c0003t0002g0342
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0232
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0021t0003g0358
a0002c0002t0064g0285
a0007c0012t0032g0180
 45 HG00544.hp2
HG00741.hp1
HG01069.hp1
others(42): Show 
HG00544.hp2
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01943.hp2
HG01981.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp1
HG02258.hp2
HG02559.hp2
HG02622.hp1
HG02723.hp2
HG02738.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG03195.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp2
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19030.hp1
NA19063.hp1
NA19074.hp1
NA19085.hp1
NA20300.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.690+3779G>A
c.690+3779G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78960637
chr5:78960658 G
G
 A
A
 100 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(97): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 100 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(97): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.690+3758C>T
c.690+3758C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78960658
chr5:78960667 C
C
 T
T
 2 a0001c0001t0001g0263
a0001c0001t0010g0264
a0001c0001t0001g0263
a0001c0001t0010g0264
 2 HG03491.hp2
HG03492.hp2
HG03491.hp2
HG03492.hp2
 intron_variant MODIFIER c.690+3749G>A
c.690+3749G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78960667
chr5:78960726 G
G
 A
A
 2 a0001c0001t0007g0115
a0001c0001t0031g0324
a0001c0001t0007g0115
a0001c0001t0031g0324
 2 HG02809.hp1
HG03130.hp2
HG02809.hp1
HG03130.hp2
 intron_variant MODIFIER c.690+3690C>T
c.690+3690C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78960726
chr5:78960773 C
C
 T
T
 4 a0001c0003t0002g0342
a0001c0003t0007g0132
a0001c0003t0025g0341
others(1): Show 
a0001c0003t0002g0342
a0001c0003t0007g0132
a0001c0003t0025g0341
a0002c0002t0064g0285
 4 HG01167.hp2
HG01192.hp1
HG01192.hp2
others(1): Show 
HG01167.hp2
HG01192.hp1
HG01192.hp2
NA20752.hp2
 intron_variant MODIFIER c.690+3643G>A
c.690+3643G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78960773
chr5:78960810 G
G
 A
A
 1 a0001c0001t0025g0316
a0001c0001t0025g0316
 1 NA18959.hp2
NA18959.hp2
 intron_variant MODIFIER c.690+3606C>T
c.690+3606C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78960810
chr5:78960866 G
G
 A
A
 69 a0001c0001t0002g0261
a0001c0003t0002g0160
a0001c0003t0002g0269
others(66): Show 
a0001c0001t0002g0261
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0006g0212
a0001c0003t0006g0267
a0001c0003t0010g0157
a0001c0003t0041g0155
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
 69 HG00099.hp1
HG00140.hp2
HG00323.hp2
others(66): Show 
HG00099.hp1
HG00140.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02293.hp2
HG02698.hp1
HG02717.hp1
HG02896.hp1
HG03041.hp1
HG03130.hp1
HG03225.hp1
HG03669.hp2
HG03710.hp1
HG04115.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.690+3550C>T
c.690+3550C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78960866
chr5:78960966 G
G
 T
T
 1 a0001c0001t0007g0333
a0001c0001t0007g0333
 1 HG01943.hp2
HG01943.hp2
 intron_variant MODIFIER c.690+3450C>A
c.690+3450C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78960966
chr5:78961028 C
C
 T
T
 2 a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0003t0073g0099
a0001c0005t0036g0275
 2 HG02615.hp2
HG03540.hp1
HG02615.hp2
HG03540.hp1
 intron_variant MODIFIER c.690+3388G>A
c.690+3388G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78961028
chr5:78961093 C
C
 A
A
 100 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(97): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 100 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(97): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.690+3323G>T
c.690+3323G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78961093
chr5:78961124 T
T
 C
C
 4 a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0003t0009g0281
others(1): Show 
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0003t0009g0281
a0001c0007t0068g0111
 4 HG02040.hp2
HG02976.hp2
HG03041.hp2
others(1): Show 
HG02040.hp2
HG02976.hp2
HG03041.hp2
HG03516.hp2
 intron_variant MODIFIER c.690+3292A>G
c.690+3292A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78961124
chr5:78961126 G
G
 C
C
 100 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(97): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 100 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(97): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.690+3290C>G
c.690+3290C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78961126
chr5:78961184 T
T
 C
C
 34 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0005
others(31): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0005
a0001c0001t0002g0201
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0006g0219
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0276
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0035g0357
a0001c0003t0073g0099
a0001c0005t0032g0117
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0022t0006g0359
a0002c0002t0001g0345
a0003c0004t0003g0095
 34 HG01109.hp2
HG02056.hp2
HG02135.hp1
others(31): Show 
HG01109.hp2
HG02056.hp2
HG02135.hp1
HG02155.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02615.hp2
HG02683.hp2
HG02723.hp1
HG02965.hp1
HG03017.hp2
HG03098.hp2
HG03209.hp2
HG03225.hp2
HG03471.hp2
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG04115.hp2
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA19011.hp2
NA19043.hp2
NA19077.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.690+3232A>G
c.690+3232A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78961184
chr5:78961278 G
G
 T
T
 51 a0001c0001t0001g0315
a0001c0001t0003g0019
a0001c0001t0003g0021
others(48): Show 
a0001c0001t0001g0315
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0008g0131
a0001c0001t0008g0297
a0001c0001t0011g0046
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0003t0058g0045
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0003g0283
a0003c0004t0011g0007
a0003c0004t0033g0282
a0004c0006t0016g0163
 51 HG00280.hp1
HG00323.hp1
HG00408.hp1
others(48): Show 
HG00280.hp1
HG00323.hp1
HG00408.hp1
HG00544.hp1
HG00558.hp2
HG01070.hp2
HG01071.hp1
HG01255.hp2
HG01358.hp2
HG01515.hp1
HG01517.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG03834.hp1
HG03927.hp1
HG03942.hp2
HG04184.hp1
NA18612.hp2
NA18747.hp1
NA18947.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18972.hp1
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp2
NA20752.hp1
NA20805.hp1
 intron_variant MODIFIER c.690+3138C>A
c.690+3138C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78961278
chr5:78961428 A
A
 G
G
 169 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(166): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0261
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0003g0095
a0007c0012t0032g0180
 169 HG00099.hp1
HG00140.hp2
HG00323.hp2
others(166): Show 
HG00099.hp1
HG00140.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03710.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
NA18612.hp1
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp2
NA19084.hp2
NA19085.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.690+2988T>C
c.690+2988T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78961428
chr5:78961486 G
G
 A
A
 2 a0002c0002t0002g0125
a0002c0002t0003g0129
a0002c0002t0002g0125
a0002c0002t0003g0129
 2 HG02004.hp2
HG03942.hp2
HG02004.hp2
HG03942.hp2
 intron_variant MODIFIER c.690+2930C>T
c.690+2930C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78961486
chr5:78961532 C
C
 T
T
 100 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(97): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 100 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(97): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.690+2884G>A
c.690+2884G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78961532
chr5:78961651 T
T
 C
C
 1 a0001c0003t0002g0262
a0001c0003t0002g0262
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.690+2765A>G
c.690+2765A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78961651
chr5:78961693 T
T
 C
C
 3 a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
 3 HG02055.hp1
NA18906.hp2
NA19240.hp2
HG02055.hp1
NA18906.hp2
NA19240.hp2
 intron_variant MODIFIER c.690+2723A>G
c.690+2723A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78961693
chr5:78961744 C
C
 T
T
 1 a0001c0001t0059g0332
a0001c0001t0059g0332
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.690+2672G>A
c.690+2672G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78961744
chr5:78961811 C
C
 T
T
 1 a0002c0002t0001g0345
a0002c0002t0001g0345
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.690+2605G>A
c.690+2605G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78961811
chr5:78961829 C
C
 A
A
 100 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(97): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 100 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(97): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.690+2587G>T
c.690+2587G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78961829
chr5:78962162 C
C
 A
A
 2 a0001c0001t0003g0214
a0001c0001t0004g0328
a0001c0001t0003g0214
a0001c0001t0004g0328
 2 HG02698.hp2
HG03017.hp1
HG02698.hp2
HG03017.hp1
 intron_variant MODIFIER c.690+2254G>T
c.690+2254G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78962162
chr5:78962204 T
T
 C
C
 2 a0001c0001t0001g0305
a0001c0001t0008g0286
a0001c0001t0001g0305
a0001c0001t0008g0286
 2 HG02056.hp1
HG02135.hp2
HG02056.hp1
HG02135.hp2
 intron_variant MODIFIER c.690+2212A>G
c.690+2212A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78962204
chr5:78962229 A
A
 G
G
 3 a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
 3 HG02055.hp1
NA18906.hp2
NA19240.hp2
HG02055.hp1
NA18906.hp2
NA19240.hp2
 intron_variant MODIFIER c.690+2187T>C
c.690+2187T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78962229
chr5:78962393 G
G
 A
A
 6 a0001c0001t0001g0321
a0001c0001t0002g0209
a0001c0001t0005g0208
others(3): Show 
a0001c0001t0001g0321
a0001c0001t0002g0209
a0001c0001t0005g0208
a0001c0003t0002g0320
a0001c0003t0022g0229
a0001c0003t0060g0210
 6 HG00544.hp2
HG02071.hp1
HG02132.hp1
others(3): Show 
HG00544.hp2
HG02071.hp1
HG02132.hp1
HG02155.hp1
NA19063.hp1
NA19074.hp1
 intron_variant MODIFIER c.690+2023C>T
c.690+2023C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78962393
chr5:78962522 C
C
 T
T
 4 a0001c0001t0004g0278
a0001c0003t0006g0103
a0001c0015t0027g0102
others(1): Show 
a0001c0001t0004g0278
a0001c0003t0006g0103
a0001c0015t0027g0102
a0005c0016t0002g0237
 4 HG02055.hp2
HG02622.hp2
HG02809.hp2
others(1): Show 
HG02055.hp2
HG02622.hp2
HG02809.hp2
HG02922.hp2
 intron_variant MODIFIER c.690+1894G>A
c.690+1894G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78962522
chr5:78962524 A
A
 AT
AT
 90 a0001c0001t0001g0289
a0001c0001t0001g0315
a0001c0001t0002g0039
others(87): Show 
a0001c0001t0001g0289
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0140
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0307
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0005g0038
a0001c0001t0006g0356
a0001c0001t0008g0131
a0001c0001t0008g0297
a0001c0001t0010g0141
a0001c0001t0011g0046
a0001c0001t0018g0130
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0037g0059
a0001c0003t0002g0253
a0001c0003t0006g0103
a0001c0003t0006g0254
a0001c0003t0009g0281
a0001c0003t0027g0114
a0001c0003t0058g0045
a0001c0005t0075g0112
a0001c0007t0068g0111
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0014t0015g0202
a0004c0006t0016g0163
a0005c0016t0002g0237
 91 HG00099.hp2
HG00280.hp1
HG00280.hp2
others(88): Show 
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01175.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01517.hp2
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02886.hp2
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp2
HG04184.hp1
NA18612.hp2
NA18747.hp1
NA18947.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18972.hp1
NA18979.hp1
NA18985.hp1
NA18992.hp1
NA18994.hp1
NA18994.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19043.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.690+1891dupA
c.690+1891dupA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78962524
chr5:78962524 A
A
 ATTTT
ATTTT
 14 a0001c0001t0002g0092
a0001c0001t0007g0250
a0001c0001t0043g0090
others(11): Show 
a0001c0001t0002g0092
a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0001g0326
a0001c0003t0002g0078
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0089
a0001c0003t0012g0350
a0001c0003t0069g0273
 14 HG00733.hp1
HG00741.hp1
HG01168.hp2
others(11): Show 
HG00733.hp1
HG00741.hp1
HG01168.hp2
HG01243.hp1
HG02258.hp2
HG02572.hp1
HG02647.hp1
HG02723.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG03139.hp2
HG03490.hp1
NA19030.hp1
 intron_variant MODIFIER c.690+1888_690+1891d
others(6): Show 
c.690+1888_690+1891dupAAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78962524
chr5:78962524 A
A
 ATTTTT
ATTTTT
 34 a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
others(31): Show 
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0209
a0001c0001t0005g0195
a0001c0001t0007g0333
a0001c0001t0059g0332
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0344
a0001c0003t0002g0262
a0001c0003t0002g0342
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0012g0232
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0255
a0001c0007t0004g0100
a0001c0007t0036g0259
a0002c0002t0064g0285
a0007c0012t0032g0180
 34 HG00544.hp2
HG01069.hp1
HG01074.hp1
others(31): Show 
HG00544.hp2
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01261.hp2
HG01346.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02074.hp1
HG02132.hp1
HG02451.hp2
HG02622.hp1
HG02895.hp1
HG02922.hp1
HG03195.hp1
HG03453.hp1
HG03491.hp1
HG03540.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19063.hp1
NA19074.hp1
NA19085.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.690+1887_690+1891d
others(7): Show 
c.690+1887_690+1891dupAAAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78962524
chr5:78962524 A
A
 ATTTTTT
ATTTTTT
 17 a0001c0001t0005g0208
a0001c0001t0007g0115
a0001c0001t0031g0324
others(14): Show 
a0001c0001t0005g0208
a0001c0001t0007g0115
a0001c0001t0031g0324
a0001c0003t0001g0047
a0001c0003t0002g0101
a0001c0003t0002g0270
a0001c0003t0002g0320
a0001c0003t0008g0116
a0001c0003t0018g0260
a0001c0003t0031g0119
a0001c0003t0070g0251
a0001c0005t0017g0010
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0008t0008g0118
a0001c0021t0003g0358
 17 HG01243.hp2
HG01884.hp1
HG02055.hp1
others(14): Show 
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02071.hp1
HG02155.hp1
HG02559.hp2
HG02615.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02965.hp1
HG02965.hp2
HG03130.hp2
HG03209.hp1
HG03486.hp1
HG03516.hp1
NA19010.hp1
 intron_variant MODIFIER c.690+1886_690+1891d
others(8): Show 
c.690+1886_690+1891dupAAAAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78962524
chr5:78962524 A
A
 ATTTTTTT
ATTTTTTT
 10 a0001c0001t0002g0005
a0001c0003t0002g0276
a0001c0003t0002g0354
others(7): Show 
a0001c0001t0002g0005
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0012g0177
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0035g0357
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0022t0006g0359
 10 HG02258.hp1
HG02451.hp1
HG02559.hp1
others(7): Show 
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02717.hp2
HG02723.hp1
HG03225.hp2
HG03471.hp2
NA19043.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.690+1885_690+1891d
others(9): Show 
c.690+1885_690+1891dupAAAAAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78962524
chr5:78962524 A
A
 ATTTTTTT
others(1): Show 
ATTTTTTTT
 17 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0201
others(14): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0201
a0001c0001t0003g0301
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0006g0219
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0051g0239
a0001c0003t0002g0338
a0001c0003t0012g0166
a0001c0003t0014g0220
a0002c0002t0001g0345
a0003c0004t0003g0095
 17 HG01109.hp2
HG02056.hp2
HG02155.hp2
others(14): Show 
HG01109.hp2
HG02056.hp2
HG02155.hp2
HG02683.hp2
HG03017.hp2
HG03098.hp2
HG03209.hp2
HG03491.hp2
HG03492.hp2
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18969.hp2
NA18988.hp2
NA18989.hp1
NA19011.hp2
NA19077.hp2
 intron_variant MODIFIER c.690+1884_690+1891d
others(10): Show 
c.690+1884_690+1891dupAAAAAAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78962524
chr5:78962524 A
A
 ATTTTTTT
others(2): Show 
ATTTTTTTTT
 7 a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0009g0226
others(4): Show 
a0001c0001t0003g0293
a0001c0001t0003g0339
a0001c0001t0009g0226
a0001c0001t0013g0227
a0001c0001t0047g0043
a0001c0003t0073g0099
a0001c0005t0036g0275
 7 HG02135.hp1
HG02615.hp2
HG03540.hp1
others(4): Show 
HG02135.hp1
HG02615.hp2
HG03540.hp1
HG04115.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
 intron_variant MODIFIER c.690+1883_690+1891d
others(11): Show 
c.690+1883_690+1891dupAAAAAAAAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78962524
chr5:78962524 AT
AT
 A
A
 71 a0001c0001t0001g0144
a0001c0001t0002g0261
a0001c0001t0008g0040
others(68): Show 
a0001c0001t0001g0144
a0001c0001t0002g0261
a0001c0001t0008g0040
a0001c0003t0002g0013
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0006g0212
a0001c0003t0006g0267
a0001c0003t0010g0157
a0001c0003t0041g0155
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
 71 HG00099.hp1
HG00140.hp2
HG00323.hp2
others(68): Show 
HG00099.hp1
HG00140.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02293.hp2
HG02698.hp1
HG02717.hp1
HG02896.hp1
HG03041.hp1
HG03130.hp1
HG03195.hp2
HG03225.hp1
HG03669.hp2
HG03710.hp1
HG04115.hp1
NA18612.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp1
NA18951.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.690+1891delA
c.690+1891delA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78962524
chr5:78962581 G
G
 A
A
 100 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(97): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 100 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(97): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.690+1835C>T
c.690+1835C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78962581
chr5:78962586 G
G
 C
C
 3 a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
 3 HG01496.hp1
HG02896.hp1
HG03225.hp1
HG01496.hp1
HG02896.hp1
HG03225.hp1
 intron_variant MODIFIER c.690+1830C>G
c.690+1830C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78962586
chr5:78962588 T
T
 C
C
 100 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(97): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 100 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(97): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.690+1828A>G
c.690+1828A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78962588
chr5:78962597 G
G
 A
A
 45 a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
others(42): Show 
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0209
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0320
a0001c0003t0002g0342
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0232
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0021t0003g0358
a0002c0002t0064g0285
a0007c0012t0032g0180
 45 HG00544.hp2
HG00741.hp1
HG01069.hp1
others(42): Show 
HG00544.hp2
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01943.hp2
HG01981.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp1
HG02258.hp2
HG02559.hp2
HG02622.hp1
HG02723.hp2
HG02738.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG03195.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp2
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19030.hp1
NA19063.hp1
NA19074.hp1
NA19085.hp1
NA20300.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.690+1819C>T
c.690+1819C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78962597
chr5:78962601 C
C
 A
A
 1 a0001c0001t0001g0035
a0001c0001t0001g0035
 1 NA18957.hp1
NA18957.hp1
 intron_variant MODIFIER c.690+1815G>T
c.690+1815G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78962601
chr5:78962621 G
G
 A
A
 1 a0002c0002t0011g0230
a0002c0002t0011g0230
 1 HG02132.hp2
HG02132.hp2
 intron_variant MODIFIER c.690+1795C>T
c.690+1795C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78962621
chr5:78962642 C
C
 T
T
 1 a0001c0008t0002g0120
a0001c0008t0002g0120
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.690+1774G>A
c.690+1774G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78962642
chr5:78962687 C
C
 T
T
 45 a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
others(42): Show 
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0209
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0320
a0001c0003t0002g0342
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0232
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0021t0003g0358
a0002c0002t0064g0285
a0007c0012t0032g0180
 45 HG00544.hp2
HG00741.hp1
HG01069.hp1
others(42): Show 
HG00544.hp2
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01943.hp2
HG01981.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp1
HG02258.hp2
HG02559.hp2
HG02622.hp1
HG02723.hp2
HG02738.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG03195.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp2
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19030.hp1
NA19063.hp1
NA19074.hp1
NA19085.hp1
NA20300.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.690+1729G>A
c.690+1729G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78962687
chr5:78962854 C
C
 T
T
 100 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(97): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 100 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(97): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.690+1562G>A
c.690+1562G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78962854
chr5:78962928 A
A
 G
G
 2 a0002c0002t0003g0319
a0002c0002t0005g0318
a0002c0002t0003g0319
a0002c0002t0005g0318
 2 HG00621.hp1
NA18948.hp1
HG00621.hp1
NA18948.hp1
 intron_variant MODIFIER c.690+1488T>C
c.690+1488T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78962928
chr5:78963089 G
G
 A
A
 100 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(97): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 100 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(97): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.690+1327C>T
c.690+1327C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78963089
chr5:78963147 G
G
 T
T
 100 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(97): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 100 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(97): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.690+1269C>A
c.690+1269C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78963147
chr5:78963211 G
G
 A
A
 100 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(97): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 100 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(97): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.690+1205C>T
c.690+1205C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78963211
chr5:78963234 T
T
 G
G
 69 a0001c0001t0002g0261
a0001c0003t0002g0160
a0001c0003t0002g0269
others(66): Show 
a0001c0001t0002g0261
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0006g0212
a0001c0003t0006g0267
a0001c0003t0010g0157
a0001c0003t0041g0155
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
 69 HG00099.hp1
HG00140.hp2
HG00323.hp2
others(66): Show 
HG00099.hp1
HG00140.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02293.hp2
HG02698.hp1
HG02717.hp1
HG02896.hp1
HG03041.hp1
HG03130.hp1
HG03225.hp1
HG03669.hp2
HG03710.hp1
HG04115.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.690+1182A>C
c.690+1182A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78963234
chr5:78963486 AG
AG
 A
A
 25 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0201
others(22): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0201
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0276
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0014g0220
a0001c0003t0035g0357
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0022t0006g0359
a0002c0002t0001g0345
a0003c0004t0003g0095
 25 HG02056.hp2
HG02135.hp1
HG02155.hp2
others(22): Show 
HG02056.hp2
HG02135.hp1
HG02155.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02683.hp2
HG02723.hp1
HG02965.hp1
HG03017.hp2
HG03491.hp2
HG03492.hp2
HG04115.hp2
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA19011.hp2
NA19043.hp2
NA19077.hp2
 intron_variant MODIFIER c.690+929delC
c.690+929delC
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78963486
chr5:78963492 C
C
 T
T
 25 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0201
others(22): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0201
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0276
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0014g0220
a0001c0003t0035g0357
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0022t0006g0359
a0002c0002t0001g0345
a0003c0004t0003g0095
 25 HG02056.hp2
HG02135.hp1
HG02155.hp2
others(22): Show 
HG02056.hp2
HG02135.hp1
HG02155.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02683.hp2
HG02723.hp1
HG02965.hp1
HG03017.hp2
HG03491.hp2
HG03492.hp2
HG04115.hp2
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA19011.hp2
NA19043.hp2
NA19077.hp2
 intron_variant MODIFIER c.690+924G>A
c.690+924G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78963492
chr5:78963703 G
G
 C
C
 1 a0001c0001t0008g0036
a0001c0001t0008g0036
 1 NA18962.hp2
NA18962.hp2
 intron_variant MODIFIER c.690+713C>G
c.690+713C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78963703
chr5:78963737 G
G
 A
A
 100 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(97): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 100 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(97): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.690+679C>T
c.690+679C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78963737
chr5:78963758 A
A
 G
G
 2 a0002c0002t0002g0056
a0002c0002t0042g0224
a0002c0002t0002g0056
a0002c0002t0042g0224
 2 HG00423.hp2
NA18984.hp2
HG00423.hp2
NA18984.hp2
 intron_variant MODIFIER c.690+658T>C
c.690+658T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78963758
chr5:78963822 A
A
 C
C
 100 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(97): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 100 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(97): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.690+594T>G
c.690+594T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78963822
chr5:78963864 G
G
 A
A
 100 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(97): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 100 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(97): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.690+552C>T
c.690+552C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78963864
chr5:78964012 C
C
 T
T
 69 a0001c0001t0002g0261
a0001c0003t0002g0160
a0001c0003t0002g0269
others(66): Show 
a0001c0001t0002g0261
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0006g0212
a0001c0003t0006g0267
a0001c0003t0010g0157
a0001c0003t0041g0155
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
 69 HG00099.hp1
HG00140.hp2
HG00323.hp2
others(66): Show 
HG00099.hp1
HG00140.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02293.hp2
HG02698.hp1
HG02717.hp1
HG02896.hp1
HG03041.hp1
HG03130.hp1
HG03225.hp1
HG03669.hp2
HG03710.hp1
HG04115.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.690+404G>A
c.690+404G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78964012
chr5:78964065 G
G
 A
A
 282 a0001c0001t0001g0087
a0001c0001t0001g0245
a0001c0001t0001g0263
others(279): Show 
a0001c0001t0001g0087
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0064
a0001c0001t0003g0140
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0330
a0001c0001t0005g0038
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0131
a0001c0001t0008g0279
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0141
a0001c0001t0010g0244
a0001c0001t0010g0264
a0001c0001t0011g0046
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
a0005c0016t0002g0237
a0007c0012t0032g0180
 283 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(280): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp2
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.690+351C>T
c.690+351C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78964065
chr5:78964073 C
C
 T
T
 45 a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
others(42): Show 
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0209
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0320
a0001c0003t0002g0342
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0232
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0021t0003g0358
a0002c0002t0064g0285
a0007c0012t0032g0180
 45 HG00544.hp2
HG00741.hp1
HG01069.hp1
others(42): Show 
HG00544.hp2
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01943.hp2
HG01981.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp1
HG02258.hp2
HG02559.hp2
HG02622.hp1
HG02723.hp2
HG02738.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG03195.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp2
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19030.hp1
NA19063.hp1
NA19074.hp1
NA19085.hp1
NA20300.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.690+343G>A
c.690+343G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78964073
chr5:78964145 A
A
 C
C
 100 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(97): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 100 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(97): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.690+271T>G
c.690+271T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78964145
chr5:78964280 T
T
 C
C
 16 a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0001t0044g0091
others(13): Show 
a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0089
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0007t0036g0259
 16 HG00741.hp1
HG01243.hp1
HG01884.hp1
others(13): Show 
HG00741.hp1
HG01243.hp1
HG01884.hp1
HG02258.hp2
HG02559.hp2
HG02622.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG03195.hp1
HG03516.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.690+136A>G
c.690+136A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 3/7 chr5 78964280
chr5:78964623 C
C
 T
T
 2 a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0003t0073g0099
a0001c0005t0036g0275
 2 HG02615.hp2
HG03540.hp1
HG02615.hp2
HG03540.hp1
 intron_variant MODIFIER c.500-17G>A
c.500-17G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78964623
chr5:78964835 C
C
 T
T
 56 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0005
others(53): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0338
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0032g0117
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0022t0006g0359
a0002c0002t0001g0345
a0003c0004t0003g0095
 56 HG00733.hp1
HG01109.hp2
HG01168.hp2
others(53): Show 
HG00733.hp1
HG01109.hp2
HG01168.hp2
HG01243.hp2
HG01891.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02135.hp1
HG02155.hp2
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG04115.hp2
NA18906.hp2
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA19011.hp2
NA19043.hp2
NA19077.hp2
NA19240.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.500-229G>A
c.500-229G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78964835
chr5:78964856 GT
GT
 G
G
 100 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(97): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 100 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(97): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.500-251delA
c.500-251delA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78964856
chr5:78964861 T
T
 A
A
 69 a0001c0001t0002g0261
a0001c0003t0002g0160
a0001c0003t0002g0269
others(66): Show 
a0001c0001t0002g0261
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0006g0212
a0001c0003t0006g0267
a0001c0003t0010g0157
a0001c0003t0041g0155
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
 69 HG00099.hp1
HG00140.hp2
HG00323.hp2
others(66): Show 
HG00099.hp1
HG00140.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02293.hp2
HG02698.hp1
HG02717.hp1
HG02896.hp1
HG03041.hp1
HG03130.hp1
HG03225.hp1
HG03669.hp2
HG03710.hp1
HG04115.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.500-255A>T
c.500-255A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78964861
chr5:78965054 C
C
 T
T
 1 a0001c0001t0014g0199
a0001c0001t0014g0199
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.500-448G>A
c.500-448G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78965054
chr5:78965194 T
T
 G
G
 83 a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0003g0019
others(80): Show 
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0140
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0004g0083
a0001c0001t0005g0038
a0001c0001t0008g0131
a0001c0001t0008g0297
a0001c0001t0010g0141
a0001c0001t0011g0046
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0003t0002g0253
a0001c0003t0058g0045
a0001c0005t0075g0112
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
 84 HG00099.hp2
HG00280.hp1
HG00280.hp2
others(81): Show 
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01517.hp2
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02647.hp2
HG02683.hp1
HG02735.hp2
HG02886.hp2
HG02976.hp1
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp2
HG04184.hp1
NA18612.hp2
NA18747.hp1
NA18947.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18972.hp1
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19043.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp1
 intron_variant MODIFIER c.500-588A>C
c.500-588A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78965194
chr5:78965291 AAT
AAT
 A
A
 100 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(97): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 100 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(97): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.500-687_500-686del
others(2): Show 
c.500-687_500-686delAT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78965291
chr5:78965380 C
C
 T
T
 6 a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0023g0162
others(3): Show 
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0023g0162
a0003c0004t0003g0283
a0003c0004t0033g0282
a0004c0006t0016g0163
 6 HG00323.hp1
HG01070.hp2
HG01071.hp1
others(3): Show 
HG00323.hp1
HG01070.hp2
HG01071.hp1
HG01255.hp2
HG01358.hp2
NA20805.hp1
 intron_variant MODIFIER c.500-774G>A
c.500-774G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78965380
chr5:78965488 T
T
 C
C
 100 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(97): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 100 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(97): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.500-882A>G
c.500-882A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78965488
chr5:78965717 GGAT
GGAT
 G
G
 3 a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
 3 HG01496.hp1
HG02896.hp1
HG03225.hp1
HG01496.hp1
HG02896.hp1
HG03225.hp1
 intron_variant MODIFIER c.500-1114_500-1112d
others(5): Show 
c.500-1114_500-1112delATC
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78965717
chr5:78965959 T
T
 C
C
 2 a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0003t0073g0099
a0001c0005t0036g0275
 2 HG02615.hp2
HG03540.hp1
HG02615.hp2
HG03540.hp1
 intron_variant MODIFIER c.500-1353A>G
c.500-1353A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78965959
chr5:78965994 A
A
 G
G
 69 a0001c0001t0002g0261
a0001c0003t0002g0160
a0001c0003t0002g0269
others(66): Show 
a0001c0001t0002g0261
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0006g0212
a0001c0003t0006g0267
a0001c0003t0010g0157
a0001c0003t0041g0155
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
 69 HG00099.hp1
HG00140.hp2
HG00323.hp2
others(66): Show 
HG00099.hp1
HG00140.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02293.hp2
HG02698.hp1
HG02717.hp1
HG02896.hp1
HG03041.hp1
HG03130.hp1
HG03225.hp1
HG03669.hp2
HG03710.hp1
HG04115.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.500-1388T>C
c.500-1388T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78965994
chr5:78966134 A
A
 G
G
 100 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(97): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 100 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(97): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.500-1528T>C
c.500-1528T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78966134
chr5:78966245 A
A
 C
C
 30 a0001c0001t0002g0039
a0001c0001t0003g0140
a0001c0001t0004g0083
others(27): Show 
a0001c0001t0002g0039
a0001c0001t0003g0140
a0001c0001t0004g0083
a0001c0001t0005g0038
a0001c0001t0010g0141
a0001c0003t0002g0253
a0001c0005t0075g0112
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
 31 HG00099.hp2
HG00280.hp2
HG00423.hp1
others(28): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01257.hp2
HG01258.hp2
HG01361.hp1
HG01433.hp2
HG01952.hp2
HG01993.hp2
HG02129.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02647.hp2
HG02683.hp1
HG02735.hp2
HG02886.hp2
HG02976.hp1
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
NA19043.hp1
NA19088.hp1
 intron_variant MODIFIER c.500-1639T>G
c.500-1639T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78966245
chr5:78966258 C
C
 A
A
 100 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(97): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 100 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(97): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.500-1652G>T
c.500-1652G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78966258
chr5:78966393 ATCT
ATCT
 A
A
 28 a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
others(25): Show 
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0209
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0007g0333
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0320
a0001c0003t0002g0342
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0015g0346
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0021t0003g0358
a0002c0002t0064g0285
a0007c0012t0032g0180
 28 HG00544.hp2
HG01069.hp1
HG01074.hp1
others(25): Show 
HG00544.hp2
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01261.hp2
HG01346.hp1
HG01943.hp2
HG01981.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp1
HG02738.hp1
HG03490.hp1
HG03491.hp1
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19074.hp1
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.500-1790_500-1788d
others(5): Show 
c.500-1790_500-1788delAGA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78966393
chr5:78966501 T
T
 C
C
 3 a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0007t0068g0111
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0007t0068g0111
 3 HG02976.hp2
HG03041.hp2
HG03516.hp2
HG02976.hp2
HG03041.hp2
HG03516.hp2
 intron_variant MODIFIER c.500-1895A>G
c.500-1895A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78966501
chr5:78966513 C
C
 A
A
 2 a0001c0003t0008g0116
a0001c0003t0031g0119
a0001c0003t0008g0116
a0001c0003t0031g0119
 2 HG03209.hp1
HG03486.hp1
HG03209.hp1
HG03486.hp1
 intron_variant MODIFIER c.500-1907G>T
c.500-1907G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78966513
chr5:78966541 A
A
 G
G
 1 a0001c0001t0002g0277
a0001c0001t0002g0277
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.500-1935T>C
c.500-1935T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78966541
chr5:78966575 C
C
 T
T
 16 a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0001t0044g0091
others(13): Show 
a0001c0001t0007g0250
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0089
a0001c0003t0012g0232
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0007t0036g0259
 16 HG00741.hp1
HG01243.hp1
HG01884.hp1
others(13): Show 
HG00741.hp1
HG01243.hp1
HG01884.hp1
HG02258.hp2
HG02559.hp2
HG02622.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG03195.hp1
HG03516.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.500-1969G>A
c.500-1969G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78966575
chr5:78966587 C
C
 T
T
 100 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(97): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 100 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(97): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.500-1981G>A
c.500-1981G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78966587
chr5:78966729 C
C
 A
A
 258 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(255): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0261
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0140
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0005g0038
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0131
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0141
a0001c0001t0010g0264
a0001c0001t0011g0046
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
a0005c0016t0002g0237
a0007c0012t0032g0180
 259 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(256): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp2
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18993.hp2
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19062.hp2
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.500-2123G>T
c.500-2123G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78966729
chr5:78966854 T
T
 C
C
 2 a0001c0003t0006g0103
a0001c0015t0027g0102
a0001c0003t0006g0103
a0001c0015t0027g0102
 2 HG02055.hp2
HG02922.hp2
HG02055.hp2
HG02922.hp2
 intron_variant MODIFIER c.499+2152A>G
c.499+2152A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78966854
chr5:78966926 T
T
 TA
TA
 65 a0001c0001t0002g0261
a0001c0001t0021g0174
a0001c0003t0002g0160
others(62): Show 
a0001c0001t0002g0261
a0001c0001t0021g0174
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0006g0212
a0001c0003t0006g0267
a0001c0003t0010g0157
a0001c0003t0041g0155
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
 65 HG00140.hp2
HG00323.hp2
HG00423.hp2
others(62): Show 
HG00140.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01496.hp1
HG01515.hp2
HG01884.hp2
HG01891.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02293.hp2
HG02698.hp1
HG02717.hp1
HG02896.hp1
HG03041.hp1
HG03130.hp1
HG03225.hp1
HG03669.hp2
HG03710.hp1
HG04115.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp1
NA18949.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18978.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19068.hp2
NA19084.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.499+2079dupT
c.499+2079dupT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78966926
chr5:78966926 TA
TA
 T
T
 181 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(178): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0140
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0278
a0001c0001t0005g0038
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0131
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0141
a0001c0001t0010g0264
a0001c0001t0011g0046
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0014g0199
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0064g0285
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
a0005c0016t0002g0237
a0007c0012t0032g0180
 182 HG00099.hp2
HG00280.hp1
HG00280.hp2
others(179): Show 
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01952.hp2
HG01981.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18906.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp1
NA18969.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19000.hp2
NA19002.hp1
NA19003.hp1
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19062.hp2
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.499+2079delT
c.499+2079delT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78966926
chr5:78966927 A
A
 T
T
 2 a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0003t0073g0099
a0001c0005t0036g0275
 2 HG02615.hp2
HG03540.hp1
HG02615.hp2
HG03540.hp1
 intron_variant MODIFIER c.499+2079T>A
c.499+2079T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78966927
chr5:78966928 A
A
 T
T
 96 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(93): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 96 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(93): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.499+2078T>A
c.499+2078T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78966928
chr5:78966929 A
A
 T
T
 2 a0001c0001t0004g0238
a0001c0003t0007g0011
a0001c0001t0004g0238
a0001c0003t0007g0011
 2 HG02897.hp2
NA18953.hp1
HG02897.hp2
NA18953.hp1
 intron_variant MODIFIER c.499+2077T>A
c.499+2077T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78966929
chr5:78966986 G
G
 C
C
 1 a0001c0003t0001g0344
a0001c0003t0001g0344
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.499+2020C>G
c.499+2020C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78966986
chr5:78966989 T
T
 G
G
 100 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(97): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 100 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(97): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.499+2017A>C
c.499+2017A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78966989
chr5:78967007 C
C
 T
T
 28 a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
others(25): Show 
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0209
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0007g0333
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0320
a0001c0003t0002g0342
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0132
a0001c0003t0015g0346
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0021t0003g0358
a0002c0002t0064g0285
a0007c0012t0032g0180
 28 HG00544.hp2
HG01069.hp1
HG01074.hp1
others(25): Show 
HG00544.hp2
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01261.hp2
HG01346.hp1
HG01943.hp2
HG01981.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp1
HG02738.hp1
HG03490.hp1
HG03491.hp1
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp1
NA19074.hp1
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.499+1999G>A
c.499+1999G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78967007
chr5:78967089 G
G
 A
A
 4 a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
others(1): Show 
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
 4 HG00099.hp1
HG00140.hp2
HG02698.hp1
others(1): Show 
HG00099.hp1
HG00140.hp2
HG02698.hp1
HG03710.hp1
 intron_variant MODIFIER c.499+1917C>T
c.499+1917C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78967089
chr5:78967167 C
C
 T
T
 1 a0001c0001t0002g0261
a0001c0001t0002g0261
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.499+1839G>A
c.499+1839G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78967167
chr5:78967190 G
G
 A
A
 85 a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0003g0019
others(82): Show 
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0140
a0001c0001t0004g0083
a0001c0001t0005g0038
a0001c0001t0006g0356
a0001c0001t0008g0131
a0001c0001t0008g0297
a0001c0001t0010g0141
a0001c0001t0011g0046
a0001c0001t0018g0130
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0003t0002g0253
a0001c0003t0009g0281
a0001c0003t0058g0045
a0001c0005t0075g0112
a0001c0007t0068g0111
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
 86 HG00099.hp2
HG00280.hp1
HG00280.hp2
others(83): Show 
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01517.hp2
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02647.hp2
HG02683.hp1
HG02735.hp2
HG02886.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp2
HG04184.hp1
NA18612.hp2
NA18747.hp1
NA18947.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18972.hp1
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19043.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp1
 intron_variant MODIFIER c.499+1816C>T
c.499+1816C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78967190
chr5:78967369 C
C
 T
T
 100 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(97): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 100 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(97): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.499+1637G>A
c.499+1637G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78967369
chr5:78967370 G
G
 A
A
 69 a0001c0001t0002g0261
a0001c0003t0002g0160
a0001c0003t0002g0269
others(66): Show 
a0001c0001t0002g0261
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0006g0212
a0001c0003t0006g0267
a0001c0003t0010g0157
a0001c0003t0041g0155
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
 69 HG00099.hp1
HG00140.hp2
HG00323.hp2
others(66): Show 
HG00099.hp1
HG00140.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02293.hp2
HG02698.hp1
HG02717.hp1
HG02896.hp1
HG03041.hp1
HG03130.hp1
HG03225.hp1
HG03669.hp2
HG03710.hp1
HG04115.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.499+1636C>T
c.499+1636C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78967370
chr5:78967390 T
T
 A
A
 4 a0001c0001t0004g0278
a0001c0003t0006g0103
a0001c0015t0027g0102
others(1): Show 
a0001c0001t0004g0278
a0001c0003t0006g0103
a0001c0015t0027g0102
a0005c0016t0002g0237
 4 HG02055.hp2
HG02622.hp2
HG02809.hp2
others(1): Show 
HG02055.hp2
HG02622.hp2
HG02809.hp2
HG02922.hp2
 intron_variant MODIFIER c.499+1616A>T
c.499+1616A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78967390
chr5:78967401 G
G
 A
A
 1 a0001c0022t0006g0359
a0001c0022t0006g0359
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.499+1605C>T
c.499+1605C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78967401
chr5:78967470 C
C
 T
T
 7 a0001c0001t0002g0201
a0001c0001t0003g0293
a0001c0001t0004g0238
others(4): Show 
a0001c0001t0002g0201
a0001c0001t0003g0293
a0001c0001t0004g0238
a0001c0001t0009g0226
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0051g0239
 7 NA18953.hp1
NA18969.hp2
NA18972.hp2
others(4): Show 
NA18953.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
 intron_variant MODIFIER c.499+1536G>A
c.499+1536G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78967470
chr5:78967534 G
G
 A
A
 2 a0001c0001t0002g0218
a0003c0004t0001g0154
a0001c0001t0002g0218
a0003c0004t0001g0154
 2 HG02602.hp1
HG03579.hp2
HG02602.hp1
HG03579.hp2
 intron_variant MODIFIER c.499+1472C>T
c.499+1472C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78967534
chr5:78967597 C
C
 T
T
 100 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(97): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 100 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(97): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.499+1409G>A
c.499+1409G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78967597
chr5:78967604 C
C
 T
T
 32 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0005
others(29): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0005
a0001c0001t0002g0201
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0006g0219
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0276
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0035g0357
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0022t0006g0359
a0002c0002t0001g0345
a0003c0004t0003g0095
 32 HG01109.hp2
HG02056.hp2
HG02135.hp1
others(29): Show 
HG01109.hp2
HG02056.hp2
HG02135.hp1
HG02155.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02683.hp2
HG02723.hp1
HG02965.hp1
HG03017.hp2
HG03098.hp2
HG03209.hp2
HG03225.hp2
HG03471.hp2
HG03491.hp2
HG03492.hp2
HG04115.hp2
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA19011.hp2
NA19043.hp2
NA19077.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.499+1402G>A
c.499+1402G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78967604
chr5:78967632 C
C
 T
T
 2 a0001c0001t0007g0115
a0001c0001t0031g0324
a0001c0001t0007g0115
a0001c0001t0031g0324
 2 HG02809.hp1
HG03130.hp2
HG02809.hp1
HG03130.hp2
 intron_variant MODIFIER c.499+1374G>A
c.499+1374G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78967632
chr5:78967673 TA
TA
 T
T
 96 a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
others(93): Show 
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0209
a0001c0001t0002g0261
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0007g0115
a0001c0001t0007g0333
a0001c0001t0031g0324
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0002g0320
a0001c0003t0002g0342
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0267
a0001c0003t0007g0132
a0001c0003t0010g0157
a0001c0003t0015g0346
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0007t0004g0100
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
 96 HG00099.hp1
HG00140.hp2
HG00323.hp2
others(93): Show 
HG00099.hp1
HG00140.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG01069.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp2
HG01943.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02071.hp1
HG02074.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02155.hp1
HG02293.hp2
HG02698.hp1
HG02717.hp1
HG02738.hp1
HG02809.hp1
HG02896.hp1
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03490.hp1
HG03491.hp1
HG03540.hp2
HG03669.hp2
HG03710.hp1
HG04204.hp2
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19074.hp1
NA19084.hp2
NA19085.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.499+1332delT
c.499+1332delT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78967673
chr5:78967687 A
A
 G
G
 1 a0001c0001t0043g0090
a0001c0001t0043g0090
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.499+1319T>C
c.499+1319T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78967687
chr5:78967809 T
T
 C
C
 4 a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0003t0009g0281
others(1): Show 
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0003t0009g0281
a0001c0007t0068g0111
 4 HG02040.hp2
HG02976.hp2
HG03041.hp2
others(1): Show 
HG02040.hp2
HG02976.hp2
HG03041.hp2
HG03516.hp2
 intron_variant MODIFIER c.499+1197A>G
c.499+1197A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78967809
chr5:78967847 C
C
 T
T
 100 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(97): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 100 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(97): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.499+1159G>A
c.499+1159G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78967847
chr5:78967888 T
T
 C
C
 4 a0001c0001t0004g0278
a0001c0003t0006g0103
a0001c0015t0027g0102
others(1): Show 
a0001c0001t0004g0278
a0001c0003t0006g0103
a0001c0015t0027g0102
a0005c0016t0002g0237
 4 HG02055.hp2
HG02622.hp2
HG02809.hp2
others(1): Show 
HG02055.hp2
HG02622.hp2
HG02809.hp2
HG02922.hp2
 intron_variant MODIFIER c.499+1118A>G
c.499+1118A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78967888
chr5:78968041 T
T
 A
A
 2 a0001c0003t0073g0099
a0001c0005t0036g0275
a0001c0003t0073g0099
a0001c0005t0036g0275
 2 HG02615.hp2
HG03540.hp1
HG02615.hp2
HG03540.hp1
 intron_variant MODIFIER c.499+965A>T
c.499+965A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78968041
chr5:78968058 A
A
 C
C
 1 a0001c0001t0002g0277
a0001c0001t0002g0277
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.499+948T>G
c.499+948T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78968058
chr5:78968107 C
C
 T
T
 100 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(97): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 100 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(97): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.499+899G>A
c.499+899G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78968107
chr5:78968169 T
T
 C
C
 1 a0003c0014t0015g0202
a0003c0014t0015g0202
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.499+837A>G
c.499+837A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78968169
chr5:78968230 C
C
 CA
CA
 45 a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
others(42): Show 
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0209
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0320
a0001c0003t0002g0342
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0232
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0021t0003g0358
a0002c0002t0064g0285
a0007c0012t0032g0180
 45 HG00544.hp2
HG00741.hp1
HG01069.hp1
others(42): Show 
HG00544.hp2
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01943.hp2
HG01981.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp1
HG02258.hp2
HG02559.hp2
HG02622.hp1
HG02723.hp2
HG02738.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG03195.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp2
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19030.hp1
NA19063.hp1
NA19074.hp1
NA19085.hp1
NA20300.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.499+775dupT
c.499+775dupT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78968230
chr5:78968241 G
G
 A
A
 100 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(97): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 100 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(97): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.499+765C>T
c.499+765C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78968241
chr5:78968251 G
G
 C
C
 1 a0001c0003t0009g0281
a0001c0003t0009g0281
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.499+755C>G
c.499+755C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78968251
chr5:78968251 G
G
 T
T
 3 a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0007t0068g0111
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0007t0068g0111
 3 HG02976.hp2
HG03041.hp2
HG03516.hp2
HG02976.hp2
HG03041.hp2
HG03516.hp2
 intron_variant MODIFIER c.499+755C>A
c.499+755C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78968251
chr5:78968312 T
T
 A
A
 1 a0001c0001t0001g0035
a0001c0001t0001g0035
 1 NA18957.hp1
NA18957.hp1
 intron_variant MODIFIER c.499+694A>T
c.499+694A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78968312
chr5:78968315 T
T
 TTTA
TTTA
 15 a0001c0001t0001g0135
a0001c0001t0002g0039
a0001c0001t0002g0317
others(12): Show 
a0001c0001t0001g0135
a0001c0001t0002g0039
a0001c0001t0002g0317
a0001c0001t0003g0167
a0001c0001t0007g0181
a0001c0001t0008g0036
a0001c0001t0010g0107
a0001c0001t0010g0147
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0185
a0002c0002t0002g0055
a0002c0002t0004g0096
a0002c0002t0009g0194
a0002c0002t0013g0240
 15 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(12): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00609.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02293.hp2
HG03942.hp1
NA18962.hp2
NA18970.hp1
NA18979.hp2
NA18989.hp2
NA18993.hp2
NA19001.hp1
 intron_variant MODIFIER c.499+688_499+690dup
others(3): Show 
c.499+688_499+690dupTAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78968315
chr5:78968315 TTTA
TTTA
 T
T
 71 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0062
others(68): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0062
a0001c0001t0001g0087
a0001c0001t0001g0144
a0001c0001t0001g0236
a0001c0001t0002g0104
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0008g0030
a0001c0001t0008g0279
a0001c0001t0010g0244
a0001c0001t0011g0026
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0199
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0034g0072
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0065g0017
a0001c0003t0002g0013
a0001c0003t0002g0082
a0001c0003t0002g0253
a0001c0003t0002g0269
a0001c0003t0010g0157
a0001c0003t0028g0051
a0001c0003t0034g0071
a0001c0003t0041g0155
a0001c0003t0048g0266
a0001c0005t0074g0073
a0001c0018t0002g0016
a0001c0019t0022g0233
a0002c0002t0001g0183
a0002c0002t0002g0085
a0002c0002t0003g0025
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0023g0162
a0002c0002t0052g0098
a0002c0002t0057g0284
a0002c0002t0066g0355
a0002c0002t0067g0203
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0154
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0006c0020t0003g0127
 72 HG00140.hp1
HG00323.hp2
HG00408.hp2
others(69): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp2
HG00438.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp2
HG00741.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01993.hp2
HG02071.hp2
HG02080.hp2
HG02109.hp1
HG02129.hp1
HG02280.hp2
HG02293.hp1
HG02523.hp1
HG02602.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02818.hp1
HG02886.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03453.hp2
HG03486.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp1
HG03834.hp2
HG03927.hp2
HG04184.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18944.hp2
NA18950.hp1
NA18953.hp2
NA18959.hp1
NA18963.hp2
NA18978.hp2
NA18983.hp2
NA18993.hp1
NA19004.hp2
NA19009.hp2
NA19043.hp1
NA19066.hp1
NA19066.hp2
NA20805.hp1
 intron_variant MODIFIER c.499+688_499+690del
others(3): Show 
c.499+688_499+690delTAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78968315
chr5:78968315 TTTATTA
TTTATTA
 T
T
 66 a0001c0001t0001g0027
a0001c0001t0001g0315
a0001c0001t0003g0019
others(63): Show 
a0001c0001t0001g0027
a0001c0001t0001g0315
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0328
a0001c0001t0008g0040
a0001c0001t0008g0131
a0001c0001t0008g0297
a0001c0001t0010g0029
a0001c0001t0010g0141
a0001c0001t0011g0046
a0001c0001t0020g0028
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0003t0027g0114
a0001c0003t0058g0045
a0001c0017t0002g0088
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0006g0014
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0153
a0003c0004t0001g0187
a0003c0004t0003g0283
a0003c0004t0011g0007
a0003c0004t0033g0282
a0004c0006t0016g0163
 66 HG00099.hp2
HG00280.hp1
HG00280.hp2
others(63): Show 
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00544.hp1
HG00558.hp2
HG01070.hp2
HG01071.hp1
HG01255.hp2
HG01358.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02523.hp2
HG02572.hp2
HG02698.hp2
HG02886.hp1
HG02896.hp1
HG03017.hp1
HG03098.hp1
HG03834.hp1
HG03927.hp1
HG04184.hp1
NA18612.hp2
NA18747.hp1
NA18942.hp1
NA18947.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18972.hp1
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19030.hp2
NA19057.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
 intron_variant MODIFIER c.499+685_499+690del
others(6): Show 
c.499+685_499+690delTAATAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78968315
chr5:78968315 TTTATTAT
others(2): Show 
TTTATTATTA
 T
T
 4 a0001c0007t0077g0070
a0002c0002t0003g0336
a0002c0002t0025g0213
others(1): Show 
a0001c0007t0077g0070
a0002c0002t0003g0336
a0002c0002t0025g0213
a0003c0014t0015g0202
 4 HG01167.hp1
HG02027.hp1
HG02735.hp2
others(1): Show 
HG01167.hp1
HG02027.hp1
HG02735.hp2
HG04204.hp1
 intron_variant MODIFIER c.499+682_499+690del
others(9): Show 
c.499+682_499+690delTAATAATAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78968315
chr5:78968315 TTTATTAT
others(5): Show 
TTTATTATTATTA
 T
T
 10 a0001c0001t0004g0278
a0001c0001t0006g0356
a0001c0001t0018g0130
others(7): Show 
a0001c0001t0004g0278
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0003t0006g0103
a0001c0003t0009g0281
a0001c0007t0068g0111
a0001c0015t0027g0102
a0002c0002t0006g0206
a0002c0002t0019g0303
a0002c0002t0030g0304
 10 HG02040.hp2
HG02055.hp2
HG02622.hp2
others(7): Show 
HG02040.hp2
HG02055.hp2
HG02622.hp2
HG02922.hp2
HG02976.hp2
HG03041.hp2
HG03516.hp2
NA18949.hp2
NA18986.hp1
NA19068.hp2
 intron_variant MODIFIER c.499+679_499+690del
others(12): Show 
c.499+679_499+690delTAATAATAATAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78968315
chr5:78968315 TTTATTAT
others(8): Show 
TTTATTATTATTATTA
 T
T
 6 a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0221
others(3): Show 
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0221
a0004c0006t0024g0061
a0004c0006t0024g0175
a0005c0016t0002g0237
 6 HG01258.hp1
HG01358.hp1
HG01496.hp2
others(3): Show 
HG01258.hp1
HG01358.hp1
HG01496.hp2
HG02602.hp2
HG02735.hp1
HG02809.hp2
 intron_variant MODIFIER c.499+676_499+690del
others(15): Show 
c.499+676_499+690delTAATAATAATAATAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78968315
chr5:78968315 TTTATTAT
others(20): Show 
TTTATTATTATTATTATTATTATTATTA
 T
T
 100 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(97): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 100 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(97): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.499+664_499+690del
others(27): Show 
c.499+664_499+690delTAATAATAATAATAATAATAATAATAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78968315
chr5:78968417 G
G
 A
A
 1 a0001c0003t0002g0262
a0001c0003t0002g0262
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.499+589C>T
c.499+589C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78968417
chr5:78968583 T
T
 C
C
 6 a0001c0003t0002g0270
a0001c0003t0008g0116
a0001c0003t0031g0119
others(3): Show 
a0001c0003t0002g0270
a0001c0003t0008g0116
a0001c0003t0031g0119
a0001c0003t0070g0251
a0001c0008t0002g0120
a0001c0008t0008g0118
 6 HG01243.hp2
HG02615.hp1
HG02717.hp2
others(3): Show 
HG01243.hp2
HG02615.hp1
HG02717.hp2
HG02965.hp2
HG03209.hp1
HG03486.hp1
 intron_variant MODIFIER c.499+423A>G
c.499+423A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78968583
chr5:78968592 G
G
 A
A
 1 a0003c0004t0001g0124
a0003c0004t0001g0124
 1 HG02293.hp1
HG02293.hp1
 intron_variant MODIFIER c.499+414C>T
c.499+414C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78968592
chr5:78968645 A
A
 G
G
 100 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(97): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 100 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(97): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.499+361T>C
c.499+361T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78968645
chr5:78968692 A
A
 T
T
 1 a0001c0001t0003g0307
a0001c0001t0003g0307
 1 NA19001.hp2
NA19001.hp2
 intron_variant MODIFIER c.499+314T>A
c.499+314T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78968692
chr5:78968846 T
T
 C
C
 100 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(97): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 100 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(97): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.499+160A>G
c.499+160A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78968846
chr5:78968861 C
C
 G
G
 100 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(97): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 100 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(97): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.499+145G>C
c.499+145G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78968861
chr5:78968879 T
T
 C
C
 2 a0001c0001t0007g0115
a0001c0001t0031g0324
a0001c0001t0007g0115
a0001c0001t0031g0324
 2 HG02809.hp1
HG03130.hp2
HG02809.hp1
HG03130.hp2
 intron_variant MODIFIER c.499+127A>G
c.499+127A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 2/7 chr5 78968879
chr5:78969218 A
A
 G
G
 87 a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0003g0019
others(84): Show 
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0140
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0004g0083
a0001c0001t0005g0038
a0001c0001t0006g0356
a0001c0001t0008g0131
a0001c0001t0008g0297
a0001c0001t0010g0141
a0001c0001t0011g0046
a0001c0001t0018g0130
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0003t0002g0253
a0001c0003t0009g0281
a0001c0003t0058g0045
a0001c0005t0075g0112
a0001c0007t0068g0111
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
 88 HG00099.hp2
HG00280.hp1
HG00280.hp2
others(85): Show 
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01517.hp2
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02647.hp2
HG02683.hp1
HG02735.hp2
HG02886.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp2
HG04184.hp1
NA18612.hp2
NA18747.hp1
NA18947.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18972.hp1
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19043.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp1
 intron_variant MODIFIER c.313-26T>C
c.313-26T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78969218
chr5:78969269 C
C
 T
T
 44 a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
others(41): Show 
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0209
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0320
a0001c0003t0002g0342
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0012g0089
a0001c0003t0012g0232
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0007t0036g0259
a0001c0021t0003g0358
a0002c0002t0064g0285
a0007c0012t0032g0180
 44 HG00544.hp2
HG00741.hp1
HG01069.hp1
others(41): Show 
HG00544.hp2
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01943.hp2
HG01981.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp1
HG02258.hp2
HG02559.hp2
HG02622.hp1
HG02723.hp2
HG02738.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG03195.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG04204.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19030.hp1
NA19063.hp1
NA19074.hp1
NA19085.hp1
NA20300.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.313-77G>A
c.313-77G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78969269
chr5:78969273 C
C
 T
T
 100 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(97): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 100 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(97): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.313-81G>A
c.313-81G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78969273
chr5:78969311 C
C
 T
T
 5 a0001c0003t0002g0101
a0001c0003t0012g0232
a0001c0003t0061g0252
others(2): Show 
a0001c0003t0002g0101
a0001c0003t0012g0232
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
 5 HG01884.hp1
HG02622.hp1
HG02895.hp1
others(2): Show 
HG01884.hp1
HG02622.hp1
HG02895.hp1
HG03516.hp1
NA20300.hp1
 intron_variant MODIFIER c.313-119G>A
c.313-119G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78969311
chr5:78969477 CA
CA
 C
C
 69 a0001c0001t0002g0261
a0001c0003t0002g0160
a0001c0003t0002g0269
others(66): Show 
a0001c0001t0002g0261
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0006g0212
a0001c0003t0006g0267
a0001c0003t0010g0157
a0001c0003t0041g0155
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
 69 HG00099.hp1
HG00140.hp2
HG00323.hp2
others(66): Show 
HG00099.hp1
HG00140.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02293.hp2
HG02698.hp1
HG02717.hp1
HG02896.hp1
HG03041.hp1
HG03130.hp1
HG03225.hp1
HG03669.hp2
HG03710.hp1
HG04115.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.313-286delT
c.313-286delT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78969477
chr5:78969507 A
A
 C
C
 1 a0001c0005t0017g0010
a0001c0005t0017g0010
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.313-315T>G
c.313-315T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78969507
chr5:78969510 T
T
 G
G
 1 a0001c0001t0005g0172
a0001c0001t0005g0172
 1 HG00408.hp2
HG00408.hp2
 intron_variant MODIFIER c.313-318A>C
c.313-318A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78969510
chr5:78969524 C
C
 T
T
 73 a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
others(70): Show 
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0209
a0001c0001t0004g0009
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0320
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0002c0002t0064g0285
a0007c0012t0032g0180
 73 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(70): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp1
HG02258.hp2
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18962.hp1
NA18988.hp1
NA19000.hp2
NA19010.hp1
NA19030.hp1
NA19063.hp1
NA19074.hp1
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.313-332G>A
c.313-332G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78969524
chr5:78969531 A
A
 G
G
 100 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(97): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0345
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 100 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(97): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.313-339T>C
c.313-339T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78969531
chr5:78969750 G
G
 A
A
 19 a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0270
others(16): Show 
a0001c0001t0002g0092
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0350
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0008t0002g0120
a0001c0008t0008g0118
 19 HG00733.hp1
HG01168.hp2
HG01243.hp2
others(16): Show 
HG00733.hp1
HG01168.hp2
HG01243.hp2
HG01891.hp1
HG02055.hp1
HG02451.hp2
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03139.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp1
NA18906.hp2
NA19240.hp2
 intron_variant MODIFIER c.313-558C>T
c.313-558C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78969750
chr5:78969838 C
C
 T
T
 69 a0001c0001t0002g0261
a0001c0003t0002g0160
a0001c0003t0002g0269
others(66): Show 
a0001c0001t0002g0261
a0001c0003t0002g0160
a0001c0003t0002g0269
a0001c0003t0006g0212
a0001c0003t0006g0267
a0001c0003t0010g0157
a0001c0003t0041g0155
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
 69 HG00099.hp1
HG00140.hp2
HG00323.hp2
others(66): Show 
HG00099.hp1
HG00140.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02293.hp2
HG02698.hp1
HG02717.hp1
HG02896.hp1
HG03041.hp1
HG03130.hp1
HG03225.hp1
HG03669.hp2
HG03710.hp1
HG04115.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.313-646G>A
c.313-646G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78969838
chr5:78969901 A
A
 G
G
 259 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(256): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0261
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0140
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0005g0038
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0131
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0141
a0001c0001t0010g0264
a0001c0001t0011g0046
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
a0005c0016t0002g0237
a0007c0012t0032g0180
 260 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(257): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp2
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18993.hp2
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19062.hp2
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.313-709T>C
c.313-709T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78969901
chr5:78969943 C
C
 T
T
 25 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0201
others(22): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0201
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0276
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0014g0220
a0001c0003t0035g0357
a0001c0005t0032g0117
a0001c0005t0076g0268
a0001c0022t0006g0359
a0002c0002t0001g0345
a0003c0004t0003g0095
 25 HG02056.hp2
HG02135.hp1
HG02155.hp2
others(22): Show 
HG02056.hp2
HG02135.hp1
HG02155.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02683.hp2
HG02723.hp1
HG02965.hp1
HG03017.hp2
HG03491.hp2
HG03492.hp2
HG04115.hp2
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA19011.hp2
NA19043.hp2
NA19077.hp2
 intron_variant MODIFIER c.313-751G>A
c.313-751G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78969943
chr5:78970053 A
A
 G
G
 172 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(169): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0261
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0345
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0003g0095
a0007c0012t0032g0180
 172 HG00099.hp1
HG00140.hp2
HG00323.hp2
others(169): Show 
HG00099.hp1
HG00140.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03710.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
NA18612.hp1
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18951.hp2
NA18953.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp2
NA19084.hp2
NA19085.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.313-861T>C
c.313-861T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78970053
chr5:78970137 A
A
 T
T
 61 a0001c0001t0002g0261
a0001c0001t0005g0195
a0001c0003t0002g0160
others(58): Show 
a0001c0001t0002g0261
a0001c0001t0005g0195
a0001c0003t0002g0160
a0001c0003t0006g0212
a0001c0003t0010g0157
a0001c0003t0041g0155
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
 61 HG00099.hp1
HG00140.hp2
HG00323.hp2
others(58): Show 
HG00099.hp1
HG00140.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01515.hp2
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02698.hp1
HG02717.hp1
HG03669.hp2
HG03710.hp1
HG04115.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.313-945T>A
c.313-945T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78970137
chr5:78970179 CCCTT
CCCTT
 C
C
 60 a0001c0001t0005g0195
a0001c0003t0002g0160
a0001c0003t0006g0212
others(57): Show 
a0001c0001t0005g0195
a0001c0003t0002g0160
a0001c0003t0006g0212
a0001c0003t0010g0157
a0001c0003t0041g0155
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
 60 HG00099.hp1
HG00140.hp2
HG00323.hp2
others(57): Show 
HG00099.hp1
HG00140.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01515.hp2
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02698.hp1
HG03669.hp2
HG03710.hp1
HG04115.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.313-991_313-988del
others(4): Show 
c.313-991_313-988delAAGG
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78970179
chr5:78970317 A
A
 G
G
 102 a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0002g0092
others(99): Show 
a0001c0001t0001g0315
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0140
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0005g0038
a0001c0001t0006g0356
a0001c0001t0008g0131
a0001c0001t0008g0297
a0001c0001t0010g0141
a0001c0001t0011g0046
a0001c0001t0018g0130
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0003t0002g0262
a0001c0003t0002g0270
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0274
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0350
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0058g0045
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0004g0079
a0002c0002t0005g0241
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
 103 HG00099.hp2
HG00280.hp1
HG00280.hp2
others(100): Show 
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp2
HG02735.hp2
HG02886.hp2
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03139.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp2
HG04184.hp1
NA18612.hp2
NA18747.hp1
NA18947.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18972.hp1
NA18978.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp1
NA18994.hp2
NA19002.hp1
NA19003.hp1
NA19043.hp1
NA19062.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp1
 intron_variant MODIFIER c.313-1125T>C
c.313-1125T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78970317
chr5:78970477 A
A
 G
G
 90 a0001c0001t0002g0005
a0001c0001t0002g0218
a0001c0001t0003g0159
others(87): Show 
a0001c0001t0002g0005
a0001c0001t0002g0218
a0001c0001t0003g0159
a0001c0001t0004g0058
a0001c0001t0004g0278
a0001c0001t0005g0195
a0001c0001t0007g0115
a0001c0001t0020g0290
a0001c0001t0024g0182
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0003t0002g0074
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0006g0212
a0001c0003t0010g0157
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0041g0155
a0001c0003t0048g0266
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0017t0002g0088
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
 90 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(87): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02293.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02698.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02976.hp1
HG03098.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03710.hp1
HG04115.hp1
NA18612.hp1
NA18906.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19030.hp2
NA19057.hp2
NA19068.hp2
NA19077.hp2
NA19084.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.313-1285T>C
c.313-1285T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78970477
chr5:78970579 C
C
 T
T
 84 a0001c0001t0002g0005
a0001c0001t0002g0277
a0001c0001t0004g0009
others(81): Show 
a0001c0001t0002g0005
a0001c0001t0002g0277
a0001c0001t0004g0009
a0001c0001t0004g0058
a0001c0001t0004g0278
a0001c0001t0006g0219
a0001c0001t0031g0324
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0010g0157
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0022g0178
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0061g0252
a0001c0003t0073g0099
a0001c0005t0017g0255
a0001c0005t0036g0275
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0077g0070
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
 84 HG00140.hp1
HG00323.hp2
HG00423.hp2
others(81): Show 
HG00140.hp1
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp2
HG01981.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02723.hp1
HG02895.hp1
HG02896.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG04115.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18949.hp2
NA18951.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19043.hp2
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.313-1387G>A
c.313-1387G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78970579
chr5:78970642 G
G
 A
A
 65 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0039
others(62): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0003g0140
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0005g0038
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0009g0226
a0001c0001t0010g0141
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0082
a0001c0003t0002g0270
a0001c0003t0002g0338
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0014g0220
a0001c0003t0031g0119
a0001c0003t0070g0251
a0001c0005t0032g0117
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0003g0129
a0002c0002t0026g0086
a0002c0002t0038g0006
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0072g0323
a0003c0014t0015g0202
 65 HG00099.hp2
HG00280.hp2
HG00423.hp1
others(62): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01243.hp2
HG01361.hp1
HG01433.hp2
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp2
HG02056.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02615.hp1
HG02683.hp2
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02886.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03139.hp2
HG03209.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03942.hp2
HG04115.hp2
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA19011.hp2
NA19043.hp1
NA19077.hp2
NA19088.hp1
NA20752.hp1
 intron_variant MODIFIER c.313-1450C>T
c.313-1450C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78970642
chr5:78970679 C
C
 T
T
 3 a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0007t0068g0111
a0001c0001t0006g0356
a0001c0001t0018g0130
a0001c0007t0068g0111
 3 HG02976.hp2
HG03041.hp2
HG03516.hp2
HG02976.hp2
HG03041.hp2
HG03516.hp2
 intron_variant MODIFIER c.313-1487G>A
c.313-1487G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78970679
chr5:78970697 C
C
 T
T
 5 a0001c0001t0031g0324
a0001c0003t0073g0099
a0001c0005t0013g0004
others(2): Show 
a0001c0001t0031g0324
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0036g0275
 5 HG02615.hp2
HG03130.hp2
HG03540.hp1
others(2): Show 
HG02615.hp2
HG03130.hp2
HG03540.hp1
NA18906.hp2
NA19240.hp2
 intron_variant MODIFIER c.313-1505G>A
c.313-1505G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78970697
chr5:78970731 C
C
 A
A
 72 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0039
others(69): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0003g0140
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0005g0038
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0009g0226
a0001c0001t0010g0141
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0270
a0001c0003t0002g0338
a0001c0003t0002g0354
a0001c0003t0006g0254
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0014g0220
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0005t0032g0117
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0019t0022g0233
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0003g0129
a0002c0002t0026g0086
a0002c0002t0038g0006
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
 73 HG00099.hp2
HG00280.hp2
HG00423.hp1
others(70): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01243.hp2
HG01257.hp2
HG01258.hp2
HG01361.hp1
HG01433.hp2
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp2
HG02056.hp2
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02615.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp1
HG02886.hp2
HG02895.hp1
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03942.hp2
HG04115.hp2
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA19011.hp2
NA19043.hp1
NA19077.hp2
NA19088.hp1
NA20752.hp1
NA21309.hp2
 intron_variant MODIFIER c.313-1539G>T
c.313-1539G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78970731
chr5:78970763 G
G
 A
A
 66 a0001c0001t0005g0195
a0001c0001t0039g0291
a0001c0003t0002g0160
others(63): Show 
a0001c0001t0005g0195
a0001c0001t0039g0291
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0006g0267
a0001c0003t0010g0157
a0001c0003t0012g0232
a0001c0003t0041g0155
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0075g0112
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0018t0002g0016
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0287
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0186
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
 66 HG00140.hp1
HG00323.hp2
HG00423.hp2
others(63): Show 
HG00140.hp1
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01975.hp2
HG01981.hp1
HG02004.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02293.hp2
HG02622.hp1
HG02647.hp2
HG02922.hp2
HG02976.hp1
HG03669.hp2
HG04115.hp1
NA18612.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19057.hp2
NA19068.hp2
NA19084.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.313-1571C>T
c.313-1571C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78970763
chr5:78970805 G
G
 A
A
 69 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0092
others(66): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0261
a0001c0001t0003g0140
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0009g0226
a0001c0001t0010g0141
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0270
a0001c0003t0002g0338
a0001c0003t0006g0254
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0014g0220
a0001c0003t0031g0119
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0005t0032g0117
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0019t0022g0233
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0003g0129
a0002c0002t0026g0086
a0002c0002t0038g0006
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
 70 HG00099.hp2
HG00280.hp2
HG00642.hp1
others(67): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01243.hp2
HG01257.hp2
HG01258.hp2
HG01361.hp1
HG01433.hp2
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp2
HG02056.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp2
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02886.hp2
HG02895.hp1
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03942.hp2
HG04115.hp2
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA19011.hp2
NA19043.hp1
NA19077.hp2
NA19088.hp1
NA20752.hp1
NA21309.hp2
 intron_variant MODIFIER c.313-1613C>T
c.313-1613C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78970805
chr5:78970870 AG
AG
 A
A
 22 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0092
others(19): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0338
a0001c0003t0006g0103
a0001c0003t0014g0220
a0001c0015t0027g0102
a0002c0002t0001g0345
a0003c0004t0003g0095
 22 HG02055.hp2
HG02056.hp2
HG02135.hp1
others(19): Show 
HG02055.hp2
HG02056.hp2
HG02135.hp1
HG02155.hp2
HG02683.hp2
HG02922.hp2
HG03017.hp2
HG03139.hp2
HG03491.hp2
HG03492.hp2
HG04115.hp2
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA19011.hp2
NA19077.hp2
 intron_variant MODIFIER c.313-1679delC
c.313-1679delC
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78970870
chr5:78971350 A
A
 G
G
 81 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0005
others(78): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0003g0140
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0005g0038
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0009g0226
a0001c0001t0010g0141
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0270
a0001c0003t0002g0338
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0031g0119
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0005t0032g0117
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0002c0002t0001g0158
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0003g0129
a0002c0002t0026g0086
a0002c0002t0038g0006
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
 82 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(79): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01109.hp2
HG01243.hp2
HG01257.hp2
HG01258.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp2
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03942.hp2
HG04115.hp2
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA19011.hp2
NA19043.hp1
NA19077.hp2
NA19088.hp1
NA20129.hp2
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.313-2158T>C
c.313-2158T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78971350
chr5:78971368 G
G
 A
A
 48 a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
others(45): Show 
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0209
a0001c0001t0002g0277
a0001c0001t0004g0278
a0001c0001t0005g0208
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0059g0332
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0269
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0334
a0001c0003t0006g0267
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0012g0089
a0001c0003t0012g0350
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0005t0076g0268
a0001c0007t0036g0259
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0003g0336
a0002c0002t0064g0285
a0007c0012t0032g0180
 48 HG00544.hp2
HG00733.hp1
HG00741.hp1
others(45): Show 
HG00544.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01261.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp2
HG01981.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02145.hp1
HG02155.hp1
HG02258.hp2
HG02451.hp1
HG02559.hp1
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG03041.hp1
HG03195.hp1
HG03453.hp1
HG03453.hp2
HG03490.hp1
HG03491.hp1
HG04204.hp1
HG04204.hp2
NA19030.hp1
NA19043.hp2
NA19074.hp1
NA19085.hp1
NA19240.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.313-2176C>T
c.313-2176C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78971368
chr5:78971601 C
C
 T
T
 1 a0001c0001t0002g0200
a0001c0001t0002g0200
 1 NA19063.hp2
NA19063.hp2
 intron_variant MODIFIER c.313-2409G>A
c.313-2409G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78971601
chr5:78971620 C
C
 T
T
 81 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0005
others(78): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0003g0140
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0005g0038
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0009g0226
a0001c0001t0010g0141
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0270
a0001c0003t0002g0338
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0031g0119
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0005t0032g0117
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0002c0002t0001g0158
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0003g0129
a0002c0002t0026g0086
a0002c0002t0038g0006
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
 82 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(79): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01109.hp2
HG01243.hp2
HG01257.hp2
HG01258.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp2
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03942.hp2
HG04115.hp2
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA19011.hp2
NA19043.hp1
NA19077.hp2
NA19088.hp1
NA20129.hp2
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.313-2428G>A
c.313-2428G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78971620
chr5:78971729 A
A
 T
T
 1 a0002c0002t0008g0311
a0002c0002t0008g0311
 1 NA18986.hp2
NA18986.hp2
 intron_variant MODIFIER c.313-2537T>A
c.313-2537T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78971729
chr5:78971777 G
G
 A
A
 1 a0003c0004t0007g0152
a0003c0004t0007g0152
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.313-2585C>T
c.313-2585C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78971777
chr5:78971785 G
G
 A
A
 1 a0001c0001t0008g0279
a0001c0001t0008g0279
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.313-2593C>T
c.313-2593C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78971785
chr5:78971879 T
T
 C
C
 81 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0005
others(78): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0003g0140
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0005g0038
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0009g0226
a0001c0001t0010g0141
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0270
a0001c0003t0002g0338
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0031g0119
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0005t0032g0117
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0002c0002t0001g0158
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0003g0129
a0002c0002t0026g0086
a0002c0002t0038g0006
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
 82 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(79): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01109.hp2
HG01243.hp2
HG01257.hp2
HG01258.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp2
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03942.hp2
HG04115.hp2
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA19011.hp2
NA19043.hp1
NA19077.hp2
NA19088.hp1
NA20129.hp2
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.313-2687A>G
c.313-2687A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78971879
chr5:78971882 G
G
 A
A
 10 a0002c0002t0001g0069
a0002c0002t0001g0287
a0002c0002t0003g0068
others(7): Show 
a0002c0002t0001g0069
a0002c0002t0001g0287
a0002c0002t0003g0068
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0325
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0121
a0002c0002t0030g0037
 10 HG00438.hp1
NA18944.hp1
NA18951.hp2
others(7): Show 
HG00438.hp1
NA18944.hp1
NA18951.hp2
NA18970.hp1
NA18975.hp1
NA19001.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp1
NA19084.hp2
 intron_variant MODIFIER c.313-2690C>T
c.313-2690C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78971882
chr5:78971974 C
C
 T
T
 81 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0005
others(78): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0003g0140
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0005g0038
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0009g0226
a0001c0001t0010g0141
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0270
a0001c0003t0002g0338
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0031g0119
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0005t0032g0117
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0002c0002t0001g0158
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0003g0129
a0002c0002t0026g0086
a0002c0002t0038g0006
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
 82 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(79): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01109.hp2
HG01243.hp2
HG01257.hp2
HG01258.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp2
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03942.hp2
HG04115.hp2
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA19011.hp2
NA19043.hp1
NA19077.hp2
NA19088.hp1
NA20129.hp2
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.313-2782G>A
c.313-2782G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78971974
chr5:78972028 G
G
 A
A
 81 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0005
others(78): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0003g0140
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0005g0038
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0009g0226
a0001c0001t0010g0141
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0270
a0001c0003t0002g0338
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0031g0119
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0005t0032g0117
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0002c0002t0001g0158
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0003g0129
a0002c0002t0026g0086
a0002c0002t0038g0006
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
 82 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(79): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01109.hp2
HG01243.hp2
HG01257.hp2
HG01258.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp2
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03942.hp2
HG04115.hp2
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA19011.hp2
NA19043.hp1
NA19077.hp2
NA19088.hp1
NA20129.hp2
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.313-2836C>T
c.313-2836C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78972028
chr5:78972033 T
T
 C
C
 142 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(139): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0277
a0001c0001t0003g0140
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0005g0038
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0141
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0334
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0032g0117
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0158
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0003g0129
a0002c0002t0003g0336
a0002c0002t0006g0014
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0052g0098
a0002c0002t0064g0285
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
a0007c0012t0032g0180
 143 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(140): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00544.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp2
HG01952.hp2
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
NA18906.hp2
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.313-2841A>G
c.313-2841A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78972033
chr5:78972080 A
A
 G
G
 1 a0002c0002t0019g0248
a0002c0002t0019g0248
 1 HG00673.hp1
HG00673.hp1
 intron_variant MODIFIER c.313-2888T>C
c.313-2888T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78972080
chr5:78972164 G
G
 A
A
 5 a0001c0003t0002g0354
a0001c0003t0035g0357
a0002c0002t0006g0014
others(2): Show 
a0001c0003t0002g0354
a0001c0003t0035g0357
a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0013t0017g0015
 5 HG01496.hp1
HG02258.hp1
HG02723.hp1
others(2): Show 
HG01496.hp1
HG02258.hp1
HG02723.hp1
HG02896.hp1
HG03225.hp1
 intron_variant MODIFIER c.313-2972C>T
c.313-2972C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78972164
chr5:78972305 C
C
 T
T
 34 a0001c0001t0002g0039
a0001c0001t0003g0140
a0001c0001t0004g0083
others(31): Show 
a0001c0001t0002g0039
a0001c0001t0003g0140
a0001c0001t0004g0083
a0001c0001t0005g0038
a0001c0001t0010g0141
a0001c0003t0002g0101
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0010g0157
a0001c0003t0061g0252
a0002c0002t0001g0158
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
 35 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(32): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01257.hp2
HG01258.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp2
HG01952.hp2
HG01993.hp2
HG02129.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02683.hp1
HG02735.hp2
HG02886.hp2
HG02895.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03669.hp1
HG03710.hp2
NA19043.hp1
NA19088.hp1
NA21309.hp2
 intron_variant MODIFIER c.313-3113G>A
c.313-3113G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78972305
chr5:78972371 C
C
 T
T
 81 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0005
others(78): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0003g0140
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0005g0038
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0009g0226
a0001c0001t0010g0141
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0270
a0001c0003t0002g0338
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0031g0119
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0005t0032g0117
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0002c0002t0001g0158
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0003g0129
a0002c0002t0026g0086
a0002c0002t0038g0006
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
 82 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(79): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01109.hp2
HG01243.hp2
HG01257.hp2
HG01258.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp2
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03942.hp2
HG04115.hp2
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA19011.hp2
NA19043.hp1
NA19077.hp2
NA19088.hp1
NA20129.hp2
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.313-3179G>A
c.313-3179G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78972371
chr5:78972428 T
T
 C
C
 81 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0005
others(78): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0003g0140
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0005g0038
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0009g0226
a0001c0001t0010g0141
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0270
a0001c0003t0002g0338
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0031g0119
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0005t0032g0117
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0002c0002t0001g0158
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0003g0129
a0002c0002t0026g0086
a0002c0002t0038g0006
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
 82 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(79): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01109.hp2
HG01243.hp2
HG01257.hp2
HG01258.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp2
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03942.hp2
HG04115.hp2
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA19011.hp2
NA19043.hp1
NA19077.hp2
NA19088.hp1
NA20129.hp2
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.313-3236A>G
c.313-3236A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78972428
chr5:78972503 T
T
 G
G
 81 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0005
others(78): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0003g0140
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0005g0038
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0009g0226
a0001c0001t0010g0141
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0270
a0001c0003t0002g0338
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0031g0119
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0005t0032g0117
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0002c0002t0001g0158
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0003g0129
a0002c0002t0026g0086
a0002c0002t0038g0006
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
 82 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(79): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01109.hp2
HG01243.hp2
HG01257.hp2
HG01258.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp2
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03942.hp2
HG04115.hp2
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA19011.hp2
NA19043.hp1
NA19077.hp2
NA19088.hp1
NA20129.hp2
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.313-3311A>C
c.313-3311A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78972503
chr5:78972516 T
T
 TAC
TAC
 16 a0001c0001t0003g0159
a0001c0001t0004g0058
a0001c0001t0005g0075
others(13): Show 
a0001c0001t0003g0159
a0001c0001t0004g0058
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0008g0223
a0001c0001t0034g0072
a0001c0003t0002g0074
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0034g0071
a0001c0003t0048g0266
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0074g0073
a0001c0007t0077g0070
 16 HG00738.hp1
HG01069.hp2
HG01071.hp2
others(13): Show 
HG00738.hp1
HG01069.hp2
HG01071.hp2
HG01167.hp1
HG02572.hp2
HG02818.hp1
HG03098.hp1
HG03139.hp1
HG03471.hp1
HG03486.hp2
HG03579.hp1
NA18906.hp1
NA18906.hp2
NA19010.hp2
NA19030.hp2
NA19240.hp2
 intron_variant MODIFIER c.313-3326_313-3325d
others(4): Show 
c.313-3326_313-3325dupGT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78972516
chr5:78972516 T
T
 TACAC
TACAC
 95 a0001c0001t0001g0315
a0001c0001t0002g0261
a0001c0001t0003g0019
others(92): Show 
a0001c0001t0001g0315
a0001c0001t0002g0261
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0235
a0001c0001t0006g0219
a0001c0001t0008g0131
a0001c0001t0008g0297
a0001c0001t0021g0173
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0039g0291
a0001c0003t0002g0253
a0001c0003t0006g0212
a0001c0003t0012g0232
a0001c0003t0022g0229
a0001c0003t0058g0045
a0001c0003t0073g0099
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0036g0275
a0001c0005t0075g0112
a0001c0019t0022g0233
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0079
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0030g0304
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0003c0004t0003g0283
a0003c0004t0011g0007
a0003c0004t0033g0282
a0004c0006t0016g0163
a0007c0012t0032g0180
 95 HG00140.hp1
HG00280.hp1
HG00323.hp1
others(92): Show 
HG00140.hp1
HG00280.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01255.hp2
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01975.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp2
HG02132.hp2
HG02293.hp2
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02717.hp1
HG02976.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03540.hp1
HG03669.hp2
HG03927.hp1
HG04115.hp1
HG04184.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp2
NA18943.hp2
NA18946.hp1
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18972.hp1
NA18979.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18992.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19002.hp1
NA19003.hp1
NA19057.hp2
NA19062.hp2
NA19063.hp1
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.313-3328_313-3325d
others(6): Show 
c.313-3328_313-3325dupGTGT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78972516
chr5:78972516 T
T
 TACACAC
TACACAC
 20 a0001c0001t0002g0092
a0001c0001t0011g0046
a0001c0001t0021g0174
others(17): Show 
a0001c0001t0002g0092
a0001c0001t0011g0046
a0001c0001t0021g0174
a0001c0003t0002g0160
a0001c0003t0002g0354
a0001c0003t0035g0357
a0001c0005t0017g0010
a0002c0002t0001g0054
a0002c0002t0002g0055
a0002c0002t0003g0025
a0002c0002t0007g0081
a0002c0002t0013g0216
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0033g0217
a0002c0002t0042g0224
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
 20 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(17): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00609.hp2
HG01168.hp1
HG01255.hp1
HG01981.hp1
HG02055.hp1
HG02129.hp1
HG02258.hp1
HG02602.hp1
HG02723.hp1
HG03139.hp2
NA18943.hp1
NA18947.hp2
NA18978.hp1
NA18978.hp2
NA18993.hp2
NA18995.hp2
 intron_variant MODIFIER c.313-3330_313-3325d
others(8): Show 
c.313-3330_313-3325dupGTGTGT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78972516
chr5:78972516 T
T
 TACACACA
others(1): Show 
TACACACAC
 67 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(64): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0039
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0038
a0001c0001t0005g0208
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0326
a0001c0003t0002g0101
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0334
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0007g0132
a0001c0003t0010g0157
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0021t0003g0358
a0002c0002t0001g0158
a0002c0002t0002g0056
a0002c0002t0006g0014
a0002c0002t0052g0098
a0002c0002t0064g0285
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0049g0139
a0003c0004t0062g0133
a0003c0014t0015g0202
 68 HG00099.hp1
HG00423.hp1
HG00544.hp2
others(65): Show 
HG00099.hp1
HG00423.hp1
HG00544.hp2
HG00673.hp2
HG00733.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01891.hp1
HG01943.hp2
HG01952.hp2
HG01981.hp2
HG01993.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02293.hp1
HG02523.hp1
HG02572.hp1
HG02647.hp1
HG02683.hp1
HG02735.hp2
HG02738.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG03017.hp2
HG03225.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03669.hp1
HG03710.hp2
HG04115.hp2
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18984.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA19011.hp2
NA19043.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.313-3332_313-3325d
others(10): Show 
c.313-3332_313-3325dupGTGTGTGT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78972516
chr5:78972516 T
T
 TACACACA
others(3): Show 
TACACACACAC
 15 a0001c0001t0003g0140
a0001c0001t0004g0083
a0001c0001t0004g0278
others(12): Show 
a0001c0001t0003g0140
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0010g0141
a0001c0003t0007g0352
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
a0002c0002t0001g0345
a0002c0002t0003g0336
a0003c0004t0003g0292
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0054g0142
a0003c0004t0072g0323
 15 HG00642.hp1
HG01884.hp2
HG01891.hp2
others(12): Show 
HG00642.hp1
HG01884.hp2
HG01891.hp2
HG02129.hp2
HG02145.hp2
HG02280.hp1
HG02523.hp2
HG02622.hp2
HG02683.hp2
HG03453.hp1
HG03490.hp2
HG03492.hp1
HG04204.hp1
NA19088.hp1
NA19240.hp1
 intron_variant MODIFIER c.313-3334_313-3325d
others(12): Show 
c.313-3334_313-3325dupGTGTGTGTGT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78972516
chr5:78972516 T
T
 TACACACA
others(5): Show 
TACACACACACAC
 17 a0001c0001t0002g0277
a0001c0001t0007g0250
a0001c0003t0002g0078
others(14): Show 
a0001c0001t0002g0277
a0001c0001t0007g0250
a0001c0003t0002g0078
a0001c0003t0002g0269
a0001c0003t0002g0276
a0001c0003t0012g0089
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0005t0076g0268
a0001c0007t0036g0259
a0001c0017t0002g0088
a0001c0022t0006g0359
a0002c0002t0002g0125
a0002c0002t0003g0129
a0002c0002t0026g0086
a0002c0002t0038g0006
a0003c0004t0002g0128
 17 HG01243.hp1
HG01361.hp1
HG02004.hp2
others(14): Show 
HG01243.hp1
HG01361.hp1
HG02004.hp2
HG02258.hp2
HG02451.hp1
HG02559.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp1
HG02922.hp1
HG03041.hp1
HG03195.hp1
HG03453.hp2
HG03834.hp1
HG03942.hp2
NA19043.hp2
NA20752.hp1
 intron_variant MODIFIER c.313-3336_313-3325d
others(14): Show 
c.313-3336_313-3325dupGTGTGTGTGTGT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78972516
chr5:78972516 T
T
 TACACACA
others(7): Show 
TACACACACACACAC
 8 a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0006g0103
others(5): Show 
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0006g0103
a0001c0003t0006g0267
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0009g0281
a0001c0015t0027g0102
 8 HG00741.hp1
HG02040.hp2
HG02055.hp2
others(5): Show 
HG00741.hp1
HG02040.hp2
HG02055.hp2
HG02145.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
NA19030.hp1
 intron_variant MODIFIER c.313-3338_313-3325d
others(16): Show 
c.313-3338_313-3325dupGTGTGTGTGTGTGT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78972516
chr5:78972516 T
T
 TACACACA
others(9): Show 
TACACACACACACACAC
 4 a0001c0001t0004g0009
a0001c0001t0007g0115
a0001c0003t0001g0344
others(1): Show 
a0001c0001t0004g0009
a0001c0001t0007g0115
a0001c0003t0001g0344
a0001c0003t0002g0082
 4 HG02109.hp1
HG02809.hp1
HG03209.hp2
others(1): Show 
HG02109.hp1
HG02809.hp1
HG03209.hp2
HG04204.hp2
 intron_variant MODIFIER c.313-3340_313-3325d
others(18): Show 
c.313-3340_313-3325dupGTGTGTGTGTGTGTGT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78972516
chr5:78972516 T
T
 TACACACA
others(11): Show 
TACACACACACACACACAC
 4 a0001c0001t0002g0005
a0001c0001t0006g0356
a0001c0005t0032g0117
others(1): Show 
a0001c0001t0002g0005
a0001c0001t0006g0356
a0001c0005t0032g0117
a0005c0016t0002g0237
 4 HG02809.hp2
HG02965.hp1
HG03516.hp2
others(1): Show 
HG02809.hp2
HG02965.hp1
HG03516.hp2
NA21309.hp1
 intron_variant MODIFIER c.313-3342_313-3325d
others(20): Show 
c.313-3342_313-3325dupGTGTGTGTGTGTGTGTGT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78972516
chr5:78972516 T
T
 TACACACA
others(13): Show 
TACACACACACACACACACAC
 3 a0001c0003t0002g0270
a0001c0003t0012g0166
a0001c0007t0068g0111
a0001c0003t0002g0270
a0001c0003t0012g0166
a0001c0007t0068g0111
 3 HG01109.hp2
HG01243.hp2
HG02976.hp2
HG01109.hp2
HG01243.hp2
HG02976.hp2
 intron_variant MODIFIER c.313-3344_313-3325d
others(22): Show 
c.313-3344_313-3325dupGTGTGTGTGTGTGTGTGTGT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78972516
chr5:78972516 T
T
 TACACACA
others(17): Show 
TACACACACACACACACACACACAC
 2 a0001c0001t0018g0130
a0001c0008t0008g0118
a0001c0001t0018g0130
a0001c0008t0008g0118
 2 HG02615.hp1
HG03041.hp2
HG02615.hp1
HG03041.hp2
 intron_variant MODIFIER c.313-3348_313-3325d
others(26): Show 
c.313-3348_313-3325dupGTGTGTGTGTGTGTGTGTGTGTGT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78972516
chr5:78972516 T
T
 TACACACA
others(19): Show 
TACACACACACACACACACACACACAC
 4 a0001c0003t0008g0116
a0001c0003t0031g0119
a0001c0003t0070g0251
others(1): Show 
a0001c0003t0008g0116
a0001c0003t0031g0119
a0001c0003t0070g0251
a0001c0008t0002g0120
 4 HG02717.hp2
HG02965.hp2
HG03209.hp1
others(1): Show 
HG02717.hp2
HG02965.hp2
HG03209.hp1
HG03486.hp1
 intron_variant MODIFIER c.313-3350_313-3325d
others(28): Show 
c.313-3350_313-3325dupGTGTGTGTGTGTGTGTGTGTGTGTGT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78972516
chr5:78972516 T
T
 TACACACA
others(21): Show 
TACACACACACACACACACACACACACAC
 1 a0001c0007t0004g0100
a0001c0007t0004g0100
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.313-3352_313-3325d
others(30): Show 
c.313-3352_313-3325dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78972516
chr5:78972516 TAC
TAC
 T
T
 4 a0001c0001t0002g0143
a0001c0001t0003g0214
a0001c0001t0013g0170
others(1): Show 
a0001c0001t0002g0143
a0001c0001t0003g0214
a0001c0001t0013g0170
a0002c0002t0005g0325
 4 HG00438.hp1
HG02698.hp2
NA18946.hp2
others(1): Show 
HG00438.hp1
HG02698.hp2
NA18946.hp2
NA18959.hp1
 intron_variant MODIFIER c.313-3326_313-3325d
others(4): Show 
c.313-3326_313-3325delGT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78972516
chr5:78972543 A
A
 ACACACAC
others(15): Show 
ACACACACACACACACACACACC
 1 a0001c0003t0018g0057
a0001c0003t0018g0057
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.313-3352_313-3351i
others(24): Show 
c.313-3352_313-3351insGGTGTGTGTGTGTGTGTGTGTG
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78972543
chr5:78972543 A
A
 ACACACAC
others(9): Show 
ACACACACACACACACC
 2 a0001c0003t0012g0177
a0001c0003t0022g0178
a0001c0003t0012g0177
a0001c0003t0022g0178
 2 HG03225.hp2
HG03471.hp2
HG03225.hp2
HG03471.hp2
 intron_variant MODIFIER c.313-3352_313-3351i
others(18): Show 
c.313-3352_313-3351insGGTGTGTGTGTGTGTG
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78972543
chr5:78972543 A
A
 C
C
 2 a0001c0003t0006g0274
a0001c0003t0069g0273
a0001c0003t0006g0274
a0001c0003t0069g0273
 2 HG02895.hp2
HG02897.hp1
HG02895.hp2
HG02897.hp1
 intron_variant MODIFIER c.313-3351T>G
c.313-3351T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78972543
chr5:78972639 C
C
 T
T
 1 a0002c0002t0015g0296
a0002c0002t0015g0296
 1 NA18968.hp1
NA18968.hp1
 intron_variant MODIFIER c.313-3447G>A
c.313-3447G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78972639
chr5:78972669 A
A
 G
G
 4 a0001c0001t0003g0019
a0001c0001t0008g0131
a0001c0001t0021g0347
others(1): Show 
a0001c0001t0003g0019
a0001c0001t0008g0131
a0001c0001t0021g0347
a0003c0004t0011g0007
 4 NA18952.hp1
NA18960.hp1
NA18963.hp1
others(1): Show 
NA18952.hp1
NA18960.hp1
NA18963.hp1
NA19088.hp2
 intron_variant MODIFIER c.313-3477T>C
c.313-3477T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78972669
chr5:78972875 T
T
 C
C
 22 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0092
others(19): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0338
a0001c0003t0006g0103
a0001c0003t0014g0220
a0001c0015t0027g0102
a0002c0002t0001g0345
a0003c0004t0003g0095
 22 HG02055.hp2
HG02056.hp2
HG02135.hp1
others(19): Show 
HG02055.hp2
HG02056.hp2
HG02135.hp1
HG02155.hp2
HG02683.hp2
HG02922.hp2
HG03017.hp2
HG03139.hp2
HG03491.hp2
HG03492.hp2
HG04115.hp2
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA19011.hp2
NA19077.hp2
 intron_variant MODIFIER c.313-3683A>G
c.313-3683A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78972875
chr5:78973009 C
C
 G
G
 1 a0002c0002t0001g0310
a0002c0002t0001g0310
 1 HG02074.hp2
HG02074.hp2
 intron_variant MODIFIER c.313-3817G>C
c.313-3817G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78973009
chr5:78973066 G
G
 A
A
 81 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0005
others(78): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0003g0140
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0005g0038
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0009g0226
a0001c0001t0010g0141
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0270
a0001c0003t0002g0338
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0014g0220
a0001c0003t0018g0057
a0001c0003t0022g0178
a0001c0003t0031g0119
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0005t0032g0117
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0002c0002t0001g0158
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0003g0129
a0002c0002t0026g0086
a0002c0002t0038g0006
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
 82 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(79): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01109.hp2
HG01243.hp2
HG01257.hp2
HG01258.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp2
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03942.hp2
HG04115.hp2
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA19011.hp2
NA19043.hp1
NA19077.hp2
NA19088.hp1
NA20129.hp2
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.313-3874C>T
c.313-3874C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78973066
chr5:78973134 G
G
 A
A
 3 a0001c0001t0003g0159
a0001c0001t0004g0058
a0001c0003t0027g0114
a0001c0001t0003g0159
a0001c0001t0004g0058
a0001c0003t0027g0114
 3 HG02572.hp2
HG03098.hp1
NA19030.hp2
HG02572.hp2
HG03098.hp1
NA19030.hp2
 intron_variant MODIFIER c.313-3942C>T
c.313-3942C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78973134
chr5:78973183 C
C
 G
G
 1 a0001c0003t0002g0013
a0001c0003t0002g0013
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.313-3991G>C
c.313-3991G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78973183
chr5:78973353 A
A
 G
G
 1 a0001c0001t0002g0261
a0001c0001t0002g0261
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.313-4161T>C
c.313-4161T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78973353
chr5:78973543 A
A
 G
G
 1 a0001c0001t0011g0026
a0001c0001t0011g0026
 1 NA18993.hp1
NA18993.hp1
 intron_variant MODIFIER c.313-4351T>C
c.313-4351T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78973543
chr5:78973591 C
C
 T
T
 7 a0001c0003t0008g0116
a0001c0003t0031g0119
a0001c0003t0070g0251
others(4): Show 
a0001c0003t0008g0116
a0001c0003t0031g0119
a0001c0003t0070g0251
a0001c0005t0032g0117
a0001c0007t0004g0100
a0001c0008t0002g0120
a0001c0008t0008g0118
 7 HG02615.hp1
HG02717.hp2
HG02965.hp1
others(4): Show 
HG02615.hp1
HG02717.hp2
HG02965.hp1
HG02965.hp2
HG03209.hp1
HG03486.hp1
HG03540.hp2
 intron_variant MODIFIER c.313-4399G>A
c.313-4399G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78973591
chr5:78973641 C
C
 T
T
 79 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0005
others(76): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0003g0140
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0005g0038
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0009g0226
a0001c0001t0010g0141
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0270
a0001c0003t0002g0338
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0014g0220
a0001c0003t0022g0178
a0001c0003t0031g0119
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0005t0032g0117
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0002c0002t0001g0158
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0003g0129
a0002c0002t0026g0086
a0002c0002t0038g0006
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
 80 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(77): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01109.hp2
HG01243.hp2
HG01257.hp2
HG01258.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp2
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03942.hp2
HG04115.hp2
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA19011.hp2
NA19043.hp1
NA19077.hp2
NA19088.hp1
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.313-4449G>A
c.313-4449G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78973641
chr5:78973735 C
C
 T
T
 1 a0001c0003t0002g0013
a0001c0003t0002g0013
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.313-4543G>A
c.313-4543G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78973735
chr5:78973767 G
G
 A
A
 79 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0005
others(76): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0003g0140
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0005g0038
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0009g0226
a0001c0001t0010g0141
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0270
a0001c0003t0002g0338
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0014g0220
a0001c0003t0022g0178
a0001c0003t0031g0119
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0005t0032g0117
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0002c0002t0001g0158
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0003g0129
a0002c0002t0026g0086
a0002c0002t0038g0006
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
 80 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(77): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01109.hp2
HG01243.hp2
HG01257.hp2
HG01258.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp2
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03942.hp2
HG04115.hp2
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA19011.hp2
NA19043.hp1
NA19077.hp2
NA19088.hp1
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.313-4575C>T
c.313-4575C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78973767
chr5:78974120 G
G
 A
A
 1 a0001c0003t0002g0013
a0001c0003t0002g0013
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.313-4928C>T
c.313-4928C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78974120
chr5:78974527 T
T
 C
C
 2 a0001c0003t0002g0338
a0001c0003t0014g0220
a0001c0003t0002g0338
a0001c0003t0014g0220
 2 HG02056.hp2
HG02155.hp2
HG02056.hp2
HG02155.hp2
 intron_variant MODIFIER c.313-5335A>G
c.313-5335A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78974527
chr5:78974640 C
C
 A
A
 79 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0005
others(76): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0003g0140
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0005g0038
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0009g0226
a0001c0001t0010g0141
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0338
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0014g0220
a0001c0003t0022g0178
a0001c0003t0031g0119
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0005t0032g0117
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0002c0002t0001g0158
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0003g0129
a0002c0002t0026g0086
a0002c0002t0038g0006
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
 80 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(77): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01109.hp2
HG01257.hp2
HG01258.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp2
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03942.hp2
HG04115.hp2
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA19011.hp2
NA19043.hp1
NA19077.hp2
NA19088.hp1
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.313-5448G>T
c.313-5448G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78974640
chr5:78974739 A
A
 G
G
 1 a0001c0001t0003g0190
a0001c0001t0003g0190
 1 NA19065.hp2
NA19065.hp2
 intron_variant MODIFIER c.313-5547T>C
c.313-5547T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78974739
chr5:78975047 A
A
 G
G
 79 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0005
others(76): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0003g0140
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0005g0038
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0009g0226
a0001c0001t0010g0141
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0262
a0001c0003t0002g0338
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0014g0220
a0001c0003t0022g0178
a0001c0003t0031g0119
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0005t0032g0117
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0002c0002t0001g0158
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0003g0129
a0002c0002t0026g0086
a0002c0002t0038g0006
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
 80 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(77): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01109.hp2
HG01257.hp2
HG01258.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp2
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03942.hp2
HG04115.hp2
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA19011.hp2
NA19043.hp1
NA19077.hp2
NA19088.hp1
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.313-5855T>C
c.313-5855T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78975047
chr5:78975197 C
C
 T
T
 1 a0001c0001t0021g0173
a0001c0001t0021g0173
 1 NA18943.hp2
NA18943.hp2
 intron_variant MODIFIER c.313-6005G>A
c.313-6005G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78975197
chr5:78975223 G
G
 A
A
 1 a0001c0003t0018g0260
a0001c0003t0018g0260
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.313-6031C>T
c.313-6031C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78975223
chr5:78975364 T
T
 C
C
 77 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0005
others(74): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0003g0140
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0005g0038
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0009g0226
a0001c0001t0010g0141
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0338
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0014g0220
a0001c0003t0022g0178
a0001c0003t0031g0119
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0005t0032g0117
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0002c0002t0001g0158
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0003g0129
a0002c0002t0007g0081
a0002c0002t0009g0080
a0002c0002t0026g0086
a0002c0002t0038g0006
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0154
a0003c0004t0002g0243
a0003c0004t0003g0095
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
 78 HG00099.hp1
HG00423.hp1
HG00558.hp2
others(75): Show 
HG00099.hp1
HG00423.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01109.hp2
HG01257.hp2
HG01258.hp2
HG01433.hp2
HG01515.hp2
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03942.hp2
HG04115.hp2
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA19011.hp2
NA19043.hp1
NA19074.hp2
NA19077.hp2
NA19088.hp1
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.313-6172A>G
c.313-6172A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78975364
chr5:78975368 C
C
 A
A
 1 a0001c0003t0006g0254
a0001c0003t0006g0254
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.313-6176G>T
c.313-6176G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78975368
chr5:78975398 C
C
 G
G
 2 a0002c0002t0019g0303
a0002c0002t0030g0304
a0002c0002t0019g0303
a0002c0002t0030g0304
 2 NA18949.hp2
NA19068.hp2
NA18949.hp2
NA19068.hp2
 intron_variant MODIFIER c.313-6206G>C
c.313-6206G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78975398
chr5:78975431 G
G
 A
A
 6 a0001c0003t0008g0116
a0001c0003t0031g0119
a0001c0003t0070g0251
others(3): Show 
a0001c0003t0008g0116
a0001c0003t0031g0119
a0001c0003t0070g0251
a0001c0007t0004g0100
a0001c0008t0002g0120
a0001c0008t0008g0118
 6 HG02615.hp1
HG02717.hp2
HG02965.hp2
others(3): Show 
HG02615.hp1
HG02717.hp2
HG02965.hp2
HG03209.hp1
HG03486.hp1
HG03540.hp2
 intron_variant MODIFIER c.313-6239C>T
c.313-6239C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78975431
chr5:78975459 T
T
 C
C
 48 a0001c0001t0002g0039
a0001c0001t0003g0140
a0001c0001t0004g0083
others(45): Show 
a0001c0001t0002g0039
a0001c0001t0003g0140
a0001c0001t0004g0083
a0001c0001t0005g0038
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0010g0141
a0001c0001t0018g0130
a0001c0003t0002g0101
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0031g0119
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0005t0032g0117
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0001g0158
a0002c0002t0002g0125
a0002c0002t0003g0129
a0002c0002t0026g0086
a0002c0002t0038g0006
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0154
a0003c0004t0002g0243
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0005c0016t0002g0237
 49 HG00099.hp1
HG00423.hp1
HG00642.hp1
others(46): Show 
HG00099.hp1
HG00423.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01257.hp2
HG01258.hp2
HG01433.hp2
HG01515.hp2
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp2
HG02129.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03209.hp1
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03942.hp2
NA19043.hp1
NA19088.hp1
NA20752.hp1
NA21309.hp2
 intron_variant MODIFIER c.313-6267A>G
c.313-6267A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78975459
chr5:78975867 C
C
 T
T
 49 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(46): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0005g0208
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0334
a0001c0003t0006g0103
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0015t0027g0102
a0001c0021t0003g0358
a0002c0002t0001g0345
a0002c0002t0003g0336
a0002c0002t0064g0285
a0003c0004t0003g0095
a0007c0012t0032g0180
 49 HG00544.hp2
HG00733.hp1
HG01069.hp1
others(46): Show 
HG00544.hp2
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01261.hp2
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02647.hp1
HG02683.hp2
HG02738.hp1
HG02922.hp2
HG03017.hp2
HG03139.hp2
HG03453.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA19011.hp2
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.313-6675G>A
c.313-6675G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78975867
chr5:78975890 A
A
 C
C
 4 a0001c0001t0003g0159
a0001c0001t0004g0058
a0001c0003t0018g0057
others(1): Show 
a0001c0001t0003g0159
a0001c0001t0004g0058
a0001c0003t0018g0057
a0001c0003t0027g0114
 4 HG02572.hp2
HG03098.hp1
NA19030.hp2
others(1): Show 
HG02572.hp2
HG03098.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.313-6698T>G
c.313-6698T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78975890
chr5:78975904 A
A
 G
G
 1 a0003c0004t0062g0133
a0003c0004t0062g0133
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.313-6712T>C
c.313-6712T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78975904
chr5:78976026 T
T
 C
C
 46 a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
others(43): Show 
a0001c0001t0001g0245
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0092
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0238
a0001c0001t0004g0328
a0001c0001t0004g0337
a0001c0001t0005g0208
a0001c0001t0007g0333
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0019g0249
a0001c0001t0020g0290
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0003g0334
a0001c0003t0007g0132
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0025g0341
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0021t0003g0358
a0002c0002t0001g0345
a0002c0002t0003g0336
a0002c0002t0005g0340
a0002c0002t0064g0285
a0003c0004t0003g0095
a0003c0004t0007g0331
a0007c0012t0032g0180
 46 HG00544.hp2
HG01069.hp1
HG01074.hp1
others(43): Show 
HG00544.hp2
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01261.hp2
HG01943.hp2
HG01981.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02683.hp2
HG02738.hp1
HG03017.hp1
HG03017.hp2
HG03139.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03834.hp2
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
NA18948.hp2
NA18953.hp1
NA18960.hp2
NA18969.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp2
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA19011.hp2
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.313-6834A>G
c.313-6834A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78976026
chr5:78976093 G
G
 T
T
 55 a0001c0001t0002g0261
a0001c0001t0003g0214
a0001c0001t0004g0009
others(52): Show 
a0001c0001t0002g0261
a0001c0001t0003g0214
a0001c0001t0004g0009
a0001c0001t0005g0195
a0001c0001t0039g0291
a0001c0003t0002g0253
a0001c0003t0002g0354
a0001c0003t0006g0212
a0001c0003t0012g0232
a0001c0003t0022g0229
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0075g0112
a0001c0019t0022g0233
a0002c0002t0001g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0003g0025
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0319
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0005c0016t0002g0237
 55 HG00140.hp1
HG00323.hp2
HG00423.hp2
others(52): Show 
HG00140.hp1
HG00323.hp2
HG00423.hp2
HG00609.hp2
HG00621.hp1
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01255.hp1
HG01346.hp1
HG01346.hp2
HG01517.hp1
HG01884.hp1
HG01975.hp2
HG02004.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02258.hp1
HG02293.hp2
HG02622.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02976.hp1
HG03130.hp1
HG03209.hp2
HG03669.hp2
HG04115.hp1
NA18612.hp1
NA18943.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp1
NA18963.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18993.hp2
NA18995.hp2
NA19000.hp1
NA19057.hp2
NA19063.hp1
NA19068.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.313-6901C>A
c.313-6901C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78976093
chr5:78976164 G
G
 A
A
 7 a0001c0003t0008g0116
a0001c0003t0031g0119
a0001c0003t0070g0251
others(4): Show 
a0001c0003t0008g0116
a0001c0003t0031g0119
a0001c0003t0070g0251
a0001c0005t0032g0117
a0001c0007t0004g0100
a0001c0008t0002g0120
a0001c0008t0008g0118
 7 HG02615.hp1
HG02717.hp2
HG02965.hp1
others(4): Show 
HG02615.hp1
HG02717.hp2
HG02965.hp1
HG02965.hp2
HG03209.hp1
HG03486.hp1
HG03540.hp2
 intron_variant MODIFIER c.313-6972C>T
c.313-6972C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78976164
chr5:78976197 T
T
 C
C
 1 a0006c0020t0003g0127
a0006c0020t0003g0127
 1 NA18950.hp1
NA18950.hp1
 intron_variant MODIFIER c.313-7005A>G
c.313-7005A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78976197
chr5:78976278 C
C
 CT
CT
 27 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0168
others(24): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0168
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0003g0093
a0001c0001t0004g0278
a0001c0001t0007g0181
a0001c0001t0010g0107
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0003g0050
a0001c0003t0016g0258
a0001c0003t0028g0051
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0021t0003g0358
a0002c0002t0001g0287
a0002c0002t0002g0125
a0002c0002t0003g0129
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0063g0198
a0003c0004t0001g0001
a0003c0004t0023g0148
 28 HG01070.hp1
HG01109.hp1
HG01257.hp2
others(25): Show 
HG01070.hp1
HG01109.hp1
HG01257.hp2
HG01258.hp2
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG02004.hp2
HG02055.hp2
HG02080.hp2
HG02622.hp2
HG02738.hp1
HG03195.hp1
HG03579.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp2
NA18906.hp1
NA18947.hp1
NA18962.hp1
NA18975.hp1
NA19000.hp2
NA19010.hp1
NA19063.hp2
NA19077.hp1
NA19240.hp1
NA20752.hp1
 intron_variant MODIFIER c.313-7087dupA
c.313-7087dupA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78976278
chr5:78976278 CT
CT
 C
C
 73 a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
others(70): Show 
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0003g0307
a0001c0001t0004g0328
a0001c0001t0004g0337
a0001c0001t0005g0041
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0333
a0001c0001t0008g0040
a0001c0001t0008g0113
a0001c0001t0009g0226
a0001c0001t0010g0264
a0001c0001t0011g0242
a0001c0001t0013g0227
a0001c0001t0020g0290
a0001c0001t0021g0347
a0001c0001t0031g0324
a0001c0001t0047g0043
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0082
a0001c0003t0002g0262
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0334
a0001c0003t0006g0267
a0001c0003t0007g0132
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0060g0210
a0001c0005t0017g0010
a0001c0007t0068g0111
a0002c0002t0001g0185
a0002c0002t0001g0345
a0002c0002t0002g0085
a0002c0002t0003g0336
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0014g0106
a0002c0002t0018g0308
a0002c0002t0025g0213
a0002c0002t0064g0285
a0002c0011t0053g0002
a0003c0004t0001g0153
a0003c0004t0001g0187
a0003c0004t0003g0095
a0003c0004t0003g0292
a0003c0004t0054g0142
 73 HG00099.hp2
HG00140.hp2
HG00280.hp2
others(70): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00544.hp2
HG00642.hp1
HG00733.hp1
HG01069.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01257.hp1
HG01261.hp2
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG01993.hp1
HG02027.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02074.hp1
HG02109.hp1
HG02132.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp2
HG02647.hp1
HG02683.hp2
HG02723.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03834.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
NA18747.hp2
NA18942.hp1
NA18951.hp2
NA18961.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp2
NA18978.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19068.hp1
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
 intron_variant MODIFIER c.313-7087delA
c.313-7087delA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78976278
chr5:78976278 CTT
CTT
 C
C
 98 a0001c0001t0001g0144
a0001c0001t0001g0245
a0001c0001t0001g0315
others(95): Show 
a0001c0001t0001g0144
a0001c0001t0001g0245
a0001c0001t0001g0315
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0301
a0001c0001t0003g0339
a0001c0001t0004g0020
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0235
a0001c0001t0008g0131
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0147
a0001c0001t0011g0046
a0001c0001t0020g0146
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0025g0316
a0001c0001t0039g0291
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0006g0212
a0001c0003t0007g0352
a0001c0003t0012g0232
a0001c0003t0022g0229
a0001c0003t0031g0119
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0070g0251
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0075g0112
a0001c0007t0004g0100
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0001g0231
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0319
a0002c0002t0004g0079
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0080
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0055g0094
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0003c0004t0001g0154
a0004c0006t0016g0163
a0005c0016t0002g0237
a0007c0012t0032g0180
 98 HG00140.hp1
HG00280.hp1
HG00323.hp1
others(95): Show 
HG00140.hp1
HG00280.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01168.hp1
HG01255.hp1
HG01346.hp1
HG01346.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp1
HG02293.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp2
HG02809.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03453.hp1
HG03486.hp1
HG03540.hp2
HG03669.hp2
HG03927.hp1
HG04115.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18942.hp2
NA18943.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18968.hp1
NA18972.hp1
NA18978.hp2
NA18979.hp2
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18992.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19057.hp2
NA19062.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19068.hp2
NA19074.hp2
NA19088.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.313-7088_313-7087d
others(4): Show 
c.313-7088_313-7087delAA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78976278
chr5:78976391 G
G
 A
A
 248 a0001c0001t0001g0062
a0001c0001t0001g0087
a0001c0001t0001g0265
others(245): Show 
a0001c0001t0001g0062
a0001c0001t0001g0087
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0200
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0159
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0279
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0018g0130
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0012g0350
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0019t0022g0233
a0001c0021t0003g0358
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0248
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0176
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0042g0224
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0003g0283
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0033g0282
a0004c0006t0016g0163
a0004c0006t0024g0061
a0005c0016t0002g0237
a0007c0012t0032g0180
 249 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(246): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01943.hp2
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02155.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18946.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18972.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp1
NA18989.hp2
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19063.hp1
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19084.hp2
NA19085.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.313-7199C>T
c.313-7199C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78976391
chr5:78976406 AC
AC
 A
A
 28 a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0200
others(25): Show 
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0200
a0001c0001t0002g0209
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0327
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0208
a0001c0001t0007g0333
a0001c0001t0008g0113
a0001c0001t0013g0329
a0001c0001t0059g0332
a0001c0003t0001g0326
a0001c0003t0002g0320
a0001c0003t0003g0334
a0001c0003t0060g0210
a0001c0021t0003g0358
a0002c0002t0003g0336
a0002c0002t0005g0340
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0154
a0003c0004t0004g0122
a0003c0004t0007g0331
a0003c0004t0012g0123
 29 HG00544.hp2
HG00621.hp2
HG01257.hp2
others(26): Show 
HG00544.hp2
HG00621.hp2
HG01257.hp2
HG01258.hp2
HG01433.hp2
HG01943.hp2
HG01952.hp2
HG01981.hp2
HG01993.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02132.hp1
HG02155.hp1
HG02293.hp1
HG02602.hp1
HG02738.hp1
HG03017.hp1
HG03490.hp1
HG03834.hp2
HG03927.hp2
HG04204.hp1
NA18953.hp2
NA18968.hp2
NA18969.hp1
NA18994.hp1
NA19063.hp2
NA19074.hp1
NA19085.hp1
 intron_variant MODIFIER c.313-7215delG
c.313-7215delG
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78976406
chr5:78976410 C
C
 G
G
 2 a0001c0003t0022g0229
a0002c0002t0011g0230
a0001c0003t0022g0229
a0002c0002t0011g0230
 2 HG02132.hp2
NA19063.hp1
HG02132.hp2
NA19063.hp1
 intron_variant MODIFIER c.313-7218G>C
c.313-7218G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78976410
chr5:78976419 C
C
 T
T
 2 a0001c0003t0002g0354
a0001c0003t0035g0357
a0001c0003t0002g0354
a0001c0003t0035g0357
 2 HG02258.hp1
HG02723.hp1
HG02258.hp1
HG02723.hp1
 intron_variant MODIFIER c.313-7227G>A
c.313-7227G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78976419
chr5:78976420 G
G
 C
C
 41 a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0200
others(38): Show 
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0200
a0001c0001t0002g0209
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0327
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0208
a0001c0001t0006g0356
a0001c0001t0007g0333
a0001c0001t0008g0113
a0001c0001t0013g0329
a0001c0001t0014g0199
a0001c0001t0059g0332
a0001c0003t0001g0326
a0001c0003t0002g0320
a0001c0003t0003g0334
a0001c0003t0006g0156
a0001c0003t0010g0157
a0001c0003t0041g0155
a0001c0003t0060g0210
a0001c0005t0035g0165
a0001c0007t0068g0111
a0001c0009t0016g0272
a0001c0021t0003g0358
a0002c0002t0001g0158
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0336
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0057g0284
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0007g0331
a0003c0004t0012g0123
 42 HG00099.hp1
HG00323.hp2
HG00544.hp2
others(39): Show 
HG00099.hp1
HG00323.hp2
HG00544.hp2
HG00621.hp2
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01175.hp2
HG01257.hp2
HG01258.hp2
HG01433.hp2
HG01515.hp2
HG01891.hp2
HG01943.hp2
HG01952.hp2
HG01981.hp2
HG01993.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02132.hp1
HG02155.hp1
HG02280.hp1
HG02293.hp1
HG02559.hp2
HG02572.hp1
HG02738.hp1
HG02976.hp2
HG03017.hp1
HG03490.hp1
HG03516.hp2
HG03834.hp2
HG03927.hp2
HG04204.hp1
NA18953.hp2
NA18968.hp2
NA18969.hp1
NA18994.hp1
NA19063.hp2
NA19074.hp1
NA19085.hp1
NA20129.hp1
 intron_variant MODIFIER c.313-7228C>G
c.313-7228C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78976420
chr5:78976460 C
C
 T
T
 1 a0001c0001t0004g0278
a0001c0001t0004g0278
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.313-7268G>A
c.313-7268G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78976460
chr5:78976516 G
G
 A
A
 32 a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0092
others(29): Show 
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0092
a0001c0001t0002g0200
a0001c0001t0002g0209
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0327
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0208
a0001c0001t0007g0333
a0001c0001t0013g0329
a0001c0001t0059g0332
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0320
a0001c0003t0002g0342
a0001c0003t0003g0334
a0001c0003t0007g0132
a0001c0003t0015g0346
a0001c0003t0025g0341
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0021t0003g0358
a0002c0002t0003g0336
a0002c0002t0005g0340
a0002c0002t0064g0285
a0003c0004t0007g0331
a0007c0012t0032g0180
 32 HG00544.hp2
HG00621.hp2
HG01069.hp1
others(29): Show 
HG00544.hp2
HG00621.hp2
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01943.hp2
HG01981.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02132.hp1
HG02155.hp1
HG02738.hp1
HG03017.hp1
HG03139.hp2
HG03490.hp1
HG03491.hp1
HG03834.hp2
HG03927.hp2
HG04204.hp1
HG04204.hp2
NA18953.hp2
NA18968.hp2
NA18969.hp1
NA18994.hp1
NA19063.hp2
NA19074.hp1
NA19085.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.313-7324C>T
c.313-7324C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78976516
chr5:78976528 G
G
 A
A
 1 a0001c0005t0036g0275
a0001c0005t0036g0275
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.313-7336C>T
c.313-7336C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78976528
chr5:78976568 A
A
 C
C
 114 a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
others(111): Show 
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0200
a0001c0001t0002g0209
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0238
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0208
a0001c0001t0005g0235
a0001c0001t0007g0333
a0001c0001t0008g0131
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0018
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0040g0288
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0320
a0001c0003t0002g0342
a0001c0003t0002g0354
a0001c0003t0003g0334
a0001c0003t0006g0103
a0001c0003t0006g0254
a0001c0003t0007g0132
a0001c0003t0015g0346
a0001c0003t0025g0341
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0056g0022
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0018t0002g0016
a0001c0021t0003g0358
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0225
a0002c0002t0003g0306
a0002c0002t0003g0336
a0002c0002t0005g0241
a0002c0002t0005g0340
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0121
a0002c0002t0009g0309
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0300
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0010t0003g0161
a0002c0010t0003g0322
a0003c0004t0001g0187
a0003c0004t0003g0283
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0033g0282
a0004c0006t0016g0163
a0007c0012t0032g0180
 114 HG00099.hp2
HG00280.hp1
HG00323.hp1
others(111): Show 
HG00099.hp2
HG00280.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01109.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01358.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02258.hp1
HG02559.hp2
HG02615.hp2
HG02723.hp1
HG02738.hp1
HG02738.hp2
HG02895.hp1
HG02922.hp2
HG03017.hp1
HG03041.hp2
HG03209.hp2
HG03225.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03654.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp2
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18943.hp2
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18992.hp1
NA18994.hp1
NA18994.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19011.hp1
NA19062.hp2
NA19063.hp2
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp2
NA19085.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.313-7376T>G
c.313-7376T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78976568
chr5:78976585 G
G
 A
A
 1 a0001c0001t0004g0278
a0001c0001t0004g0278
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.313-7393C>T
c.313-7393C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78976585
chr5:78976600 G
G
 A
A
 1 a0001c0008t0002g0120
a0001c0008t0002g0120
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.313-7408C>T
c.313-7408C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78976600
chr5:78976618 C
C
 A
A
 1 a0001c0001t0006g0219
a0001c0001t0006g0219
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.313-7426G>T
c.313-7426G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78976618
chr5:78976636 G
G
 C
C
 6 a0001c0003t0002g0101
a0001c0003t0006g0254
a0001c0003t0061g0252
others(3): Show 
a0001c0003t0002g0101
a0001c0003t0006g0254
a0001c0003t0061g0252
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0018t0002g0016
 6 HG01884.hp2
HG01891.hp2
HG02895.hp1
others(3): Show 
HG01884.hp2
HG01891.hp2
HG02895.hp1
HG03516.hp1
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.313-7444C>G
c.313-7444C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78976636
chr5:78976710 T
T
 C
C
 1 a0001c0001t0004g0009
a0001c0001t0004g0009
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.313-7518A>G
c.313-7518A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78976710
chr5:78976717 T
T
 C
C
 45 a0001c0001t0003g0159
a0001c0001t0003g0214
a0001c0001t0005g0195
others(42): Show 
a0001c0001t0003g0159
a0001c0001t0003g0214
a0001c0001t0005g0195
a0001c0001t0031g0324
a0001c0001t0039g0291
a0001c0003t0002g0082
a0001c0003t0002g0253
a0001c0003t0006g0212
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0075g0112
a0001c0019t0022g0233
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0005g0192
a0002c0002t0006g0014
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0240
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0019g0248
a0002c0002t0055g0094
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0013t0017g0015
a0003c0004t0002g0128
a0003c0004t0003g0292
a0003c0014t0015g0202
 45 HG00140.hp1
HG00673.hp1
HG00733.hp2
others(42): Show 
HG00140.hp1
HG00673.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01884.hp1
HG01975.hp2
HG02004.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02280.hp1
HG02293.hp2
HG02622.hp1
HG02647.hp2
HG02698.hp2
HG02735.hp2
HG02896.hp1
HG02976.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp2
HG03471.hp2
HG03669.hp2
HG04115.hp1
NA18612.hp1
NA18951.hp1
NA18978.hp1
NA18986.hp1
NA18989.hp2
NA19000.hp1
NA19030.hp2
NA19057.hp2
NA19063.hp1
NA19068.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.313-7525A>G
c.313-7525A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78976717
chr5:78976742 C
C
 T
T
 1 a0003c0004t0002g0128
a0003c0004t0002g0128
 1 HG01361.hp1
HG01361.hp1
 intron_variant MODIFIER c.313-7550G>A
c.313-7550G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78976742
chr5:78977119 T
T
 C
C
 156 a0001c0001t0001g0087
a0001c0001t0001g0134
a0001c0001t0001g0135
others(153): Show 
a0001c0001t0001g0087
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0140
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0083
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0333
a0001c0001t0008g0131
a0001c0001t0008g0297
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0011g0242
a0001c0001t0013g0329
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0059g0332
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0160
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0003g0334
a0001c0003t0006g0156
a0001c0003t0006g0254
a0001c0003t0006g0274
a0001c0003t0007g0132
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0025g0341
a0001c0003t0031g0119
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0060g0210
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0032g0117
a0001c0008t0008g0118
a0001c0018t0002g0016
a0001c0019t0022g0233
a0002c0002t0001g0158
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0309
a0002c0002t0013g0300
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0303
a0002c0002t0026g0086
a0002c0002t0030g0304
a0002c0002t0038g0006
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0016g0163
a0006c0020t0003g0127
 157 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(154): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00544.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp2
HG00738.hp2
HG01069.hp1
HG01070.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02683.hp1
HG02683.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp2
NA18906.hp2
NA18941.hp2
NA18942.hp2
NA18943.hp2
NA18946.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18972.hp2
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18992.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19043.hp1
NA19063.hp2
NA19065.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.312+7818A>G
c.312+7818A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78977119
chr5:78977159 A
A
 C
C
 227 a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
others(224): Show 
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0245
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0333
a0001c0001t0008g0131
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0244
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0019g0249
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0354
a0001c0003t0003g0334
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0132
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0002c0002t0001g0158
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0002g0125
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0045g0302
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0067g0203
a0002c0010t0003g0161
a0002c0010t0003g0322
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0016g0221
 228 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(225): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00438.hp2
HG00544.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp1
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp2
NA18941.hp2
NA18942.hp2
NA18943.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp1
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp2
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.312+7778T>G
c.312+7778T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78977159
chr5:78977161 T
T
 C
C
 83 a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
others(80): Show 
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0002g0104
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0317
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0307
a0001c0001t0004g0238
a0001c0001t0004g0328
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0051g0239
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0015t0027g0102
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0310
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0294
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0240
a0002c0002t0014g0106
a0002c0002t0018g0308
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0025g0213
a0002c0002t0030g0304
a0002c0002t0045g0302
a0002c0002t0063g0198
a0002c0002t0067g0203
a0003c0004t0001g0187
a0003c0004t0011g0007
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
 83 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(80): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00408.hp2
HG00438.hp2
HG00621.hp1
HG00673.hp1
HG00733.hp2
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01346.hp1
HG01358.hp1
HG01496.hp2
HG01517.hp1
HG01975.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02132.hp2
HG02135.hp2
HG02293.hp2
HG02698.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp2
HG03017.hp1
HG03225.hp2
HG03471.hp2
HG03654.hp1
HG04115.hp1
HG04199.hp1
NA18612.hp1
NA18612.hp2
NA18941.hp2
NA18943.hp2
NA18946.hp1
NA18948.hp1
NA18949.hp2
NA18950.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18963.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18994.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19077.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.312+7776A>G
c.312+7776A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78977161
chr5:78977163 C
C
 T
T
 83 a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
others(80): Show 
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0002g0104
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0317
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0307
a0001c0001t0004g0238
a0001c0001t0004g0328
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0051g0239
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0015t0027g0102
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0310
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0294
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0240
a0002c0002t0014g0106
a0002c0002t0018g0308
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0025g0213
a0002c0002t0030g0304
a0002c0002t0045g0302
a0002c0002t0063g0198
a0002c0002t0067g0203
a0003c0004t0001g0187
a0003c0004t0011g0007
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
 83 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(80): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00408.hp2
HG00438.hp2
HG00621.hp1
HG00673.hp1
HG00733.hp2
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01346.hp1
HG01358.hp1
HG01496.hp2
HG01517.hp1
HG01975.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02132.hp2
HG02135.hp2
HG02293.hp2
HG02698.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp2
HG03017.hp1
HG03225.hp2
HG03471.hp2
HG03654.hp1
HG04115.hp1
HG04199.hp1
NA18612.hp1
NA18612.hp2
NA18941.hp2
NA18943.hp2
NA18946.hp1
NA18948.hp1
NA18949.hp2
NA18950.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18963.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18994.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19077.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.312+7774G>A
c.312+7774G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78977163
chr5:78977166 C
C
 T
T
 28 a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0209
others(25): Show 
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0209
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0208
a0001c0001t0007g0333
a0001c0001t0013g0329
a0001c0001t0059g0332
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0003g0334
a0001c0003t0015g0346
a0001c0003t0025g0341
a0001c0003t0046g0343
a0001c0003t0060g0210
a0002c0002t0003g0336
a0002c0002t0005g0340
a0002c0002t0064g0285
a0003c0004t0007g0331
 28 HG00544.hp2
HG00621.hp2
HG01069.hp1
others(25): Show 
HG00544.hp2
HG00621.hp2
HG01069.hp1
HG01167.hp2
HG01192.hp2
HG01943.hp2
HG01981.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG03209.hp2
HG03490.hp1
HG03491.hp1
HG03834.hp2
HG03927.hp2
HG04204.hp1
HG04204.hp2
NA18953.hp2
NA18968.hp2
NA18969.hp1
NA18994.hp1
NA19074.hp1
NA19085.hp1
NA20752.hp2
 intron_variant MODIFIER c.312+7771G>A
c.312+7771G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78977166
chr5:78977167 C
C
 A
A
 4 a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0035g0357
others(1): Show 
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0035g0357
a0001c0005t0036g0275
 4 HG02258.hp1
HG02559.hp1
HG02723.hp1
others(1): Show 
HG02258.hp1
HG02559.hp1
HG02723.hp1
HG03540.hp1
 intron_variant MODIFIER c.312+7770G>T
c.312+7770G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78977167
chr5:78977167 C
C
 G
G
 7 a0001c0001t0004g0278
a0001c0003t0002g0101
a0001c0003t0002g0253
others(4): Show 
a0001c0001t0004g0278
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0061g0252
a0001c0005t0017g0255
a0001c0005t0035g0165
a0001c0005t0075g0112
 7 HG02559.hp2
HG02622.hp1
HG02622.hp2
others(4): Show 
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02895.hp1
HG02976.hp1
HG03516.hp1
 intron_variant MODIFIER c.312+7770G>C
c.312+7770G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78977167
chr5:78977167 C
C
 T
T
 56 a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
others(53): Show 
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0003g0140
a0001c0001t0008g0131
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0018g0130
a0001c0001t0020g0146
a0001c0003t0002g0160
a0001c0003t0006g0156
a0001c0003t0007g0132
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0041g0155
a0001c0005t0017g0010
a0002c0002t0001g0158
a0002c0002t0002g0125
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0006g0126
a0002c0002t0006g0206
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0013g0216
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0033g0217
a0002c0002t0057g0284
a0002c0010t0003g0161
a0002c0010t0003g0322
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
 57 HG00099.hp1
HG00280.hp2
HG00323.hp2
others(54): Show 
HG00099.hp1
HG00280.hp2
HG00323.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp2
HG02040.hp2
HG02055.hp1
HG02129.hp2
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02572.hp1
HG02602.hp1
HG02683.hp1
HG02886.hp2
HG03041.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp1
HG03710.hp2
HG03942.hp2
NA18942.hp2
NA18946.hp2
NA18951.hp1
NA18952.hp1
NA18961.hp1
NA18968.hp1
NA18979.hp1
NA18984.hp1
NA18986.hp1
NA18995.hp1
NA19043.hp1
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA20129.hp1
 intron_variant MODIFIER c.312+7770G>A
c.312+7770G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78977167
chr5:78977168 C
C
 G
G
 1 a0001c0001t0003g0301
a0001c0001t0003g0301
 1 NA18948.hp2
NA18948.hp2
 intron_variant MODIFIER c.312+7769G>C
c.312+7769G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78977168
chr5:78977169 C
C
 G
G
 83 a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
others(80): Show 
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0002g0104
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0317
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0307
a0001c0001t0004g0238
a0001c0001t0004g0328
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0051g0239
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0015t0027g0102
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0310
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0294
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0240
a0002c0002t0014g0106
a0002c0002t0018g0308
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0025g0213
a0002c0002t0030g0304
a0002c0002t0045g0302
a0002c0002t0063g0198
a0002c0002t0067g0203
a0003c0004t0001g0187
a0003c0004t0011g0007
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
 83 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(80): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00408.hp2
HG00438.hp2
HG00621.hp1
HG00673.hp1
HG00733.hp2
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01346.hp1
HG01358.hp1
HG01496.hp2
HG01517.hp1
HG01975.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02132.hp2
HG02135.hp2
HG02293.hp2
HG02698.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp2
HG03017.hp1
HG03225.hp2
HG03471.hp2
HG03654.hp1
HG04115.hp1
HG04199.hp1
NA18612.hp1
NA18612.hp2
NA18941.hp2
NA18943.hp2
NA18946.hp1
NA18948.hp1
NA18949.hp2
NA18950.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18963.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18994.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19077.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.312+7768G>C
c.312+7768G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78977169
chr5:78977169 CG
CG
 C
C
 52 a0001c0001t0001g0245
a0001c0001t0002g0005
a0001c0001t0002g0218
others(49): Show 
a0001c0001t0001g0245
a0001c0001t0002g0005
a0001c0001t0002g0218
a0001c0001t0002g0277
a0001c0001t0003g0159
a0001c0001t0003g0301
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0010g0244
a0001c0001t0019g0249
a0001c0001t0031g0324
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0354
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0008g0116
a0001c0003t0012g0089
a0001c0003t0012g0232
a0001c0003t0014g0220
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0032g0117
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0021t0003g0358
a0002c0002t0001g0345
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0006g0211
a0002c0002t0023g0162
a0003c0004t0014g0164
a0004c0006t0016g0163
a0004c0006t0016g0221
 52 HG00323.hp1
HG00741.hp1
HG01243.hp2
others(49): Show 
HG00323.hp1
HG00741.hp1
HG01243.hp2
HG01346.hp2
HG01884.hp2
HG01891.hp2
HG01993.hp2
HG02056.hp2
HG02145.hp1
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02559.hp1
HG02615.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02886.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
NA18906.hp2
NA18948.hp2
NA18960.hp2
NA19000.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.312+7767delC
c.312+7767delC
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78977169
chr5:78977170 G
G
 C
C
 176 a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
others(173): Show 
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0317
a0001c0001t0003g0140
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0238
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0007g0333
a0001c0001t0008g0131
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0009g0226
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0011g0105
a0001c0001t0011g0242
a0001c0001t0013g0170
a0001c0001t0013g0227
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0025g0316
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0051g0239
a0001c0001t0059g0332
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0003g0334
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0007g0132
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0015g0346
a0001c0003t0022g0178
a0001c0003t0022g0229
a0001c0003t0025g0341
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0073g0099
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0035g0165
a0001c0005t0075g0112
a0001c0015t0027g0102
a0002c0002t0001g0158
a0002c0002t0001g0231
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0225
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0005g0192
a0002c0002t0005g0241
a0002c0002t0005g0318
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0294
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0011g0230
a0002c0002t0011g0234
a0002c0002t0012g0228
a0002c0002t0013g0216
a0002c0002t0013g0240
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0248
a0002c0002t0019g0303
a0002c0002t0025g0213
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0045g0302
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0067g0203
a0002c0010t0003g0161
a0002c0010t0003g0322
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0002g0243
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
 177 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(174): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp2
HG00438.hp2
HG00544.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00738.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02735.hp2
HG02738.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03669.hp1
HG03710.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp1
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18941.hp2
NA18942.hp2
NA18943.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19043.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.312+7767C>G
c.312+7767C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78977170
chr5:78977185 GCT
GCT
 G
G
 4 a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0022g0178
others(1): Show 
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0022g0178
a0001c0005t0017g0010
 4 HG01109.hp2
HG02055.hp1
HG03225.hp2
others(1): Show 
HG01109.hp2
HG02055.hp1
HG03225.hp2
HG03471.hp2
 intron_variant MODIFIER c.312+7750_312+7751d
others(4): Show 
c.312+7750_312+7751delAG
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78977185
chr5:78977215 G
G
 A
A
 2 a0002c0002t0026g0176
a0004c0006t0024g0175
a0002c0002t0026g0176
a0004c0006t0024g0175
 2 HG01258.hp1
HG01978.hp2
HG01258.hp1
HG01978.hp2
 intron_variant MODIFIER c.312+7722C>T
c.312+7722C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78977215
chr5:78977265 C
C
 T
T
 39 a0001c0001t0001g0087
a0001c0001t0001g0335
a0001c0001t0002g0005
others(36): Show 
a0001c0001t0001g0087
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0261
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0007g0333
a0001c0001t0013g0329
a0001c0001t0059g0332
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0262
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0334
a0001c0003t0007g0352
a0001c0003t0012g0350
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0046g0343
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0353
a0001c0007t0036g0259
a0001c0022t0006g0359
a0002c0002t0003g0336
a0002c0002t0005g0340
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0002t0064g0285
a0003c0004t0007g0331
 39 HG00621.hp2
HG00733.hp1
HG01069.hp1
others(36): Show 
HG00621.hp2
HG00733.hp1
HG01069.hp1
HG01106.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02071.hp2
HG02074.hp1
HG02135.hp1
HG02155.hp2
HG02451.hp2
HG02647.hp1
HG02717.hp1
HG02818.hp2
HG02922.hp1
HG03017.hp1
HG03195.hp1
HG03453.hp1
HG03490.hp1
HG03491.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG04204.hp1
HG04204.hp2
NA18906.hp2
NA18953.hp2
NA18969.hp1
NA19043.hp2
NA19085.hp1
NA19240.hp2
NA20752.hp1
NA20752.hp2
NA21309.hp1
 intron_variant MODIFIER c.312+7672G>A
c.312+7672G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78977265
chr5:78977291 T
T
 C
C
 1 a0001c0001t0002g0005
a0001c0001t0002g0005
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.312+7646A>G
c.312+7646A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78977291
chr5:78977317 C
C
 T
T
 6 a0001c0003t0001g0344
a0001c0003t0002g0342
a0001c0003t0015g0346
others(3): Show 
a0001c0003t0001g0344
a0001c0003t0002g0342
a0001c0003t0015g0346
a0001c0003t0025g0341
a0001c0003t0046g0343
a0002c0002t0064g0285
 6 HG01069.hp1
HG01167.hp2
HG01192.hp2
others(3): Show 
HG01069.hp1
HG01167.hp2
HG01192.hp2
HG03491.hp1
HG04204.hp2
NA20752.hp2
 intron_variant MODIFIER c.312+7620G>A
c.312+7620G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78977317
chr5:78977343 A
A
 C
C
 1 a0001c0001t0065g0017
a0001c0001t0065g0017
 1 NA19066.hp2
NA19066.hp2
 intron_variant MODIFIER c.312+7594T>G
c.312+7594T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78977343
chr5:78977361 C
C
 T
T
 1 a0001c0003t0006g0212
a0001c0003t0006g0212
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.312+7576G>A
c.312+7576G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78977361
chr5:78977363 A
A
 T
T
 3 a0002c0002t0057g0284
a0003c0004t0003g0283
a0003c0004t0033g0282
a0002c0002t0057g0284
a0003c0004t0003g0283
a0003c0004t0033g0282
 3 HG01175.hp2
HG01255.hp2
HG01358.hp2
HG01175.hp2
HG01255.hp2
HG01358.hp2
 intron_variant MODIFIER c.312+7574T>A
c.312+7574T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78977363
chr5:78977563 C
C
 T
T
 1 a0001c0003t0002g0160
a0001c0003t0002g0160
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.312+7374G>A
c.312+7374G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78977563
chr5:78977610 A
A
 G
G
 4 a0001c0001t0008g0279
a0001c0003t0012g0166
a0001c0003t0012g0177
others(1): Show 
a0001c0001t0008g0279
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0022g0178
 4 HG01109.hp2
HG02280.hp2
HG03225.hp2
others(1): Show 
HG01109.hp2
HG02280.hp2
HG03225.hp2
HG03471.hp2
 intron_variant MODIFIER c.312+7327T>C
c.312+7327T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78977610
chr5:78977725 C
C
 A
A
 151 a0001c0001t0001g0087
a0001c0001t0001g0168
a0001c0001t0001g0169
others(148): Show 
a0001c0001t0001g0087
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0104
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0261
a0001c0001t0002g0317
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0333
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0059g0332
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0354
a0001c0003t0003g0334
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0046g0343
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0255
a0001c0005t0032g0117
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0022t0006g0359
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0340
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0013g0216
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0303
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0001g0001
a0003c0004t0001g0187
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0033g0282
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0024g0175
a0007c0012t0032g0180
 152 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(149): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00733.hp2
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp2
HG01517.hp1
HG01943.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp2
HG03654.hp1
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04204.hp1
HG04204.hp2
NA18612.hp2
NA18906.hp2
NA18941.hp2
NA18943.hp2
NA18946.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18968.hp1
NA18969.hp1
NA18972.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18983.hp2
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18994.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19043.hp2
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19085.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.312+7212G>T
c.312+7212G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78977725
chr5:78977742 T
T
 C
C
 1 a0002c0002t0006g0126
a0002c0002t0006g0126
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.312+7195A>G
c.312+7195A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78977742
chr5:78977767 ACTT
ACTT
 A
A
 108 a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0289
others(105): Show 
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0002g0104
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0261
a0001c0001t0002g0317
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0007g0181
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0003t0002g0320
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0060g0210
a0001c0007t0036g0259
a0001c0015t0027g0102
a0001c0022t0006g0359
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0013g0216
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0303
a0002c0002t0025g0213
a0002c0002t0026g0176
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0045g0302
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0001g0001
a0003c0004t0001g0187
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0011g0007
a0003c0004t0033g0282
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0024g0175
a0007c0012t0032g0180
 109 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(106): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00642.hp2
HG00733.hp2
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp2
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02109.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG03195.hp1
HG03225.hp2
HG03471.hp2
HG03654.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
NA18612.hp2
NA18941.hp2
NA18943.hp2
NA18946.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18968.hp1
NA18972.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18983.hp2
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18994.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19043.hp2
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.312+7167_312+7169d
others(5): Show 
c.312+7167_312+7169delAAG
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78977767
chr5:78978089 A
A
 G
G
 2 a0001c0005t0035g0165
a0001c0005t0075g0112
a0001c0005t0035g0165
a0001c0005t0075g0112
 2 HG02559.hp2
HG02976.hp1
HG02559.hp2
HG02976.hp1
 intron_variant MODIFIER c.312+6848T>C
c.312+6848T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78978089
chr5:78978200 G
G
 A
A
 2 a0001c0001t0006g0356
a0001c0007t0068g0111
a0001c0001t0006g0356
a0001c0007t0068g0111
 2 HG02976.hp2
HG03516.hp2
HG02976.hp2
HG03516.hp2
 intron_variant MODIFIER c.312+6737C>T
c.312+6737C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78978200
chr5:78978200 G
G
 T
T
 110 a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0289
others(107): Show 
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0002g0104
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0317
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0181
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0003t0002g0320
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0060g0210
a0001c0007t0036g0259
a0001c0015t0027g0102
a0001c0022t0006g0359
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0013g0216
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0303
a0002c0002t0025g0213
a0002c0002t0026g0176
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0045g0302
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0001g0001
a0003c0004t0001g0187
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0011g0007
a0003c0004t0033g0282
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0024g0175
a0007c0012t0032g0180
 111 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(108): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00642.hp2
HG00733.hp2
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp2
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02109.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG03098.hp2
HG03195.hp1
HG03225.hp2
HG03471.hp2
HG03579.hp2
HG03654.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
NA18612.hp2
NA18941.hp2
NA18943.hp2
NA18946.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18968.hp1
NA18972.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18983.hp2
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18994.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19043.hp2
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.312+6737C>A
c.312+6737C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78978200
chr5:78978266 G
G
 T
T
 9 a0001c0001t0007g0115
a0001c0003t0008g0116
a0001c0003t0027g0114
others(6): Show 
a0001c0001t0007g0115
a0001c0003t0008g0116
a0001c0003t0027g0114
a0001c0003t0031g0119
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0032g0117
a0001c0008t0002g0120
a0001c0008t0008g0118
 9 HG02572.hp2
HG02615.hp1
HG02615.hp2
others(6): Show 
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02809.hp1
HG02965.hp1
HG02965.hp2
HG03209.hp1
HG03486.hp1
 intron_variant MODIFIER c.312+6671C>A
c.312+6671C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78978266
chr5:78978305 T
T
 C
C
 4 a0001c0001t0002g0218
a0001c0001t0006g0219
a0001c0003t0006g0103
others(1): Show 
a0001c0001t0002g0218
a0001c0001t0006g0219
a0001c0003t0006g0103
a0001c0015t0027g0102
 4 HG02055.hp2
HG02922.hp2
HG03098.hp2
others(1): Show 
HG02055.hp2
HG02922.hp2
HG03098.hp2
HG03579.hp2
 intron_variant MODIFIER c.312+6632A>G
c.312+6632A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78978305
chr5:78978322 T
T
 C
C
 241 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(238): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0028
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0255
a0001c0005t0032g0117
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0006g0014
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0013g0216
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0303
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0187
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0011g0007
a0003c0004t0033g0282
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0024g0061
a0004c0006t0024g0175
a0007c0012t0032g0180
 242 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(239): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00733.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18989.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18995.hp2
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.312+6615A>G
c.312+6615A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78978322
chr5:78978335 TA
TA
 T
T
 96 a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0134
others(93): Show 
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0335
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0277
a0001c0001t0003g0140
a0001c0001t0003g0293
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0006g0356
a0001c0001t0007g0333
a0001c0001t0008g0131
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0264
a0001c0001t0013g0329
a0001c0001t0018g0130
a0001c0001t0020g0146
a0001c0001t0031g0324
a0001c0001t0059g0332
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0160
a0001c0003t0002g0262
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0334
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0010g0157
a0001c0003t0012g0350
a0001c0003t0015g0346
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0005t0017g0010
a0001c0005t0017g0353
a0001c0005t0035g0165
a0001c0005t0075g0112
a0001c0007t0068g0111
a0002c0002t0001g0158
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0336
a0002c0002t0005g0340
a0002c0002t0006g0126
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0038g0006
a0002c0010t0003g0161
a0002c0010t0003g0322
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0002g0128
a0003c0004t0003g0095
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0004c0006t0016g0163
a0006c0020t0003g0127
 96 HG00099.hp1
HG00280.hp2
HG00323.hp1
others(93): Show 
HG00099.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00621.hp2
HG00642.hp1
HG00733.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp1
HG01106.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02293.hp1
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02886.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04204.hp1
HG04204.hp2
NA18942.hp2
NA18946.hp2
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18961.hp1
NA18963.hp2
NA18969.hp1
NA18972.hp2
NA18979.hp1
NA18984.hp1
NA18995.hp1
NA19043.hp1
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA20129.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.312+6601delT
c.312+6601delT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78978335
chr5:78978335 TAA
TAA
 T
T
 228 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(225): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0110
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0028
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0255
a0001c0005t0032g0117
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0006g0014
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0013g0216
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0303
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0187
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0011g0007
a0003c0004t0033g0282
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0024g0061
a0004c0006t0024g0175
a0007c0012t0032g0180
 229 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(226): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00733.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01993.hp1
HG02004.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03710.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18989.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18995.hp2
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.312+6600_312+6601d
others(4): Show 
c.312+6600_312+6601delTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78978335
chr5:78978402 A
A
 G
G
 4 a0001c0001t0002g0218
a0001c0001t0006g0219
a0001c0003t0006g0103
others(1): Show 
a0001c0001t0002g0218
a0001c0001t0006g0219
a0001c0003t0006g0103
a0001c0015t0027g0102
 4 HG02055.hp2
HG02922.hp2
HG03098.hp2
others(1): Show 
HG02055.hp2
HG02922.hp2
HG03098.hp2
HG03579.hp2
 intron_variant MODIFIER c.312+6535T>C
c.312+6535T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78978402
chr5:78978430 A
A
 G
G
 2 a0002c0002t0002g0125
a0002c0002t0006g0126
a0002c0002t0002g0125
a0002c0002t0006g0126
 2 HG02004.hp2
NA20129.hp1
HG02004.hp2
NA20129.hp1
 intron_variant MODIFIER c.312+6507T>C
c.312+6507T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78978430
chr5:78978554 T
T
 C
C
 2 a0001c0001t0006g0356
a0001c0007t0068g0111
a0001c0001t0006g0356
a0001c0007t0068g0111
 2 HG02976.hp2
HG03516.hp2
HG02976.hp2
HG03516.hp2
 intron_variant MODIFIER c.312+6383A>G
c.312+6383A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78978554
chr5:78978586 G
G
 C
C
 16 a0001c0001t0002g0092
a0001c0001t0002g0277
a0001c0001t0043g0090
others(13): Show 
a0001c0001t0002g0092
a0001c0001t0002g0277
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0012g0089
a0001c0003t0069g0273
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0017t0002g0088
 16 HG00741.hp1
HG01243.hp2
HG01891.hp2
others(13): Show 
HG00741.hp1
HG01243.hp2
HG01891.hp2
HG02145.hp1
HG02258.hp2
HG02451.hp1
HG02559.hp1
HG02886.hp1
HG02895.hp2
HG02897.hp1
HG03041.hp1
HG03139.hp2
HG03453.hp2
HG03540.hp1
NA19030.hp1
NA19240.hp1
 intron_variant MODIFIER c.312+6351C>G
c.312+6351C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78978586
chr5:78978606 C
C
 T
T
 1 a0002c0002t0011g0234
a0002c0002t0011g0234
 1 NA18612.hp1
NA18612.hp1
 intron_variant MODIFIER c.312+6331G>A
c.312+6331G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78978606
chr5:78978665 G
G
 A
A
 325 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(322): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0013g0216
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
a0007c0012t0032g0180
 326 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(323): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18989.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.312+6272C>T
c.312+6272C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78978665
chr5:78978822 A
A
 C
C
 3 a0003c0004t0001g0124
a0003c0004t0004g0122
a0003c0004t0012g0123
a0003c0004t0001g0124
a0003c0004t0004g0122
a0003c0004t0012g0123
 3 HG01433.hp2
HG01952.hp2
HG02293.hp1
HG01433.hp2
HG01952.hp2
HG02293.hp1
 intron_variant MODIFIER c.312+6115T>G
c.312+6115T>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78978822
chr5:78979197 A
A
 G
G
 4 a0001c0001t0002g0218
a0001c0001t0006g0219
a0001c0003t0006g0103
others(1): Show 
a0001c0001t0002g0218
a0001c0001t0006g0219
a0001c0003t0006g0103
a0001c0015t0027g0102
 4 HG02055.hp2
HG02922.hp2
HG03098.hp2
others(1): Show 
HG02055.hp2
HG02922.hp2
HG03098.hp2
HG03579.hp2
 intron_variant MODIFIER c.312+5740T>C
c.312+5740T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78979197
chr5:78979223 C
C
 T
T
 4 a0001c0001t0002g0218
a0001c0001t0006g0219
a0001c0003t0006g0103
others(1): Show 
a0001c0001t0002g0218
a0001c0001t0006g0219
a0001c0003t0006g0103
a0001c0015t0027g0102
 4 HG02055.hp2
HG02922.hp2
HG03098.hp2
others(1): Show 
HG02055.hp2
HG02922.hp2
HG03098.hp2
HG03579.hp2
 intron_variant MODIFIER c.312+5714G>A
c.312+5714G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78979223
chr5:78979363 G
G
 A
A
 20 a0001c0001t0001g0335
a0001c0001t0003g0327
a0001c0001t0003g0339
others(17): Show 
a0001c0001t0001g0335
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0007g0333
a0001c0001t0013g0329
a0001c0001t0059g0332
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0003g0334
a0001c0003t0015g0346
a0001c0003t0025g0341
a0001c0003t0046g0343
a0002c0002t0003g0336
a0002c0002t0005g0340
a0003c0004t0007g0331
 20 HG00621.hp2
HG01069.hp1
HG01167.hp2
others(17): Show 
HG00621.hp2
HG01069.hp1
HG01167.hp2
HG01943.hp2
HG01981.hp2
HG02071.hp2
HG02074.hp1
HG02135.hp1
HG02155.hp2
HG03017.hp1
HG03490.hp1
HG03491.hp1
HG03834.hp2
HG03927.hp2
HG04204.hp1
HG04204.hp2
NA18953.hp2
NA18969.hp1
NA19085.hp1
NA20752.hp2
 intron_variant MODIFIER c.312+5574C>T
c.312+5574C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78979363
chr5:78979399 G
G
 A
A
 1 a0001c0001t0031g0324
a0001c0001t0031g0324
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.312+5538C>T
c.312+5538C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78979399
chr5:78979586 G
G
 A
A
 2 a0001c0005t0035g0165
a0001c0005t0075g0112
a0001c0005t0035g0165
a0001c0005t0075g0112
 2 HG02559.hp2
HG02976.hp1
HG02559.hp2
HG02976.hp1
 intron_variant MODIFIER c.312+5351C>T
c.312+5351C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78979586
chr5:78979722 A
A
 G
G
 327 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(324): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0013g0216
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
a0007c0012t0032g0180
 328 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(325): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18989.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.312+5215T>C
c.312+5215T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78979722
chr5:78979779 C
C
 T
T
 2 a0001c0001t0002g0218
a0001c0001t0006g0219
a0001c0001t0002g0218
a0001c0001t0006g0219
 2 HG03098.hp2
HG03579.hp2
HG03098.hp2
HG03579.hp2
 intron_variant MODIFIER c.312+5158G>A
c.312+5158G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78979779
chr5:78979828 G
G
 C
C
 132 a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0289
others(129): Show 
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0104
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0317
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0320
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0255
a0001c0005t0032g0117
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0022t0006g0359
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0013g0216
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0303
a0002c0002t0025g0213
a0002c0002t0026g0176
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0045g0302
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0001g0001
a0003c0004t0001g0187
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0011g0007
a0003c0004t0033g0282
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0024g0175
a0007c0012t0032g0180
 133 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(130): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00642.hp2
HG00733.hp2
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp2
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02109.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
NA18612.hp2
NA18906.hp2
NA18941.hp2
NA18943.hp2
NA18946.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18968.hp1
NA18972.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18983.hp2
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18994.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19043.hp2
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19240.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.312+5109C>G
c.312+5109C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78979828
chr5:78979885 C
C
 T
T
 326 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(323): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0015g0346
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0025g0341
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0046g0343
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0019t0022g0233
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0013g0216
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
a0007c0012t0032g0180
 327 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(324): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18969.hp1
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18989.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.312+5052G>A
c.312+5052G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78979885
chr5:78979937 T
T
 G
G
 1 a0001c0001t0003g0214
a0001c0001t0003g0214
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.312+5000A>C
c.312+5000A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78979937
chr5:78979945 T
T
 C
C
 132 a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0289
others(129): Show 
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0104
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0317
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0320
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0255
a0001c0005t0032g0117
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0022t0006g0359
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0013g0216
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0303
a0002c0002t0025g0213
a0002c0002t0026g0176
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0045g0302
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0001g0001
a0003c0004t0001g0187
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0011g0007
a0003c0004t0033g0282
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0024g0175
a0007c0012t0032g0180
 133 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(130): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00642.hp2
HG00733.hp2
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp2
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02109.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
NA18612.hp2
NA18906.hp2
NA18941.hp2
NA18943.hp2
NA18946.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18968.hp1
NA18972.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18983.hp2
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18994.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19043.hp2
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19240.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.312+4992A>G
c.312+4992A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78979945
chr5:78980010 A
A
 G
G
 22 a0001c0001t0002g0005
a0001c0001t0006g0356
a0001c0001t0007g0115
others(19): Show 
a0001c0001t0002g0005
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0354
a0001c0003t0006g0254
a0001c0003t0008g0116
a0001c0003t0027g0114
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0255
a0001c0005t0032g0117
a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
 22 HG02258.hp1
HG02572.hp2
HG02615.hp1
others(19): Show 
HG02258.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02895.hp1
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03209.hp1
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
NA18906.hp2
NA19240.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.312+4927T>C
c.312+4927T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78980010
chr5:78980011 T
T
 G
G
 3 a0001c0001t0003g0093
a0002c0002t0055g0094
a0003c0004t0003g0095
a0001c0001t0003g0093
a0002c0002t0055g0094
a0003c0004t0003g0095
 3 HG03017.hp2
HG03669.hp2
HG04199.hp2
HG03017.hp2
HG03669.hp2
HG04199.hp2
 intron_variant MODIFIER c.312+4926A>C
c.312+4926A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78980011
chr5:78980069 G
G
 A
A
 132 a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0289
others(129): Show 
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0104
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0317
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0320
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0255
a0001c0005t0032g0117
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0022t0006g0359
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0013g0216
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0303
a0002c0002t0025g0213
a0002c0002t0026g0176
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0045g0302
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0001g0001
a0003c0004t0001g0187
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0011g0007
a0003c0004t0033g0282
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0024g0175
a0007c0012t0032g0180
 133 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(130): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00642.hp2
HG00733.hp2
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp2
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02109.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
NA18612.hp2
NA18906.hp2
NA18941.hp2
NA18943.hp2
NA18946.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18968.hp1
NA18972.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18983.hp2
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18994.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19043.hp2
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19240.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.312+4868C>T
c.312+4868C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78980069
chr5:78980099 G
G
 A
A
 6 a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0007g0352
others(3): Show 
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0007g0352
a0001c0003t0012g0350
a0001c0003t0028g0348
a0001c0005t0017g0353
 6 HG00733.hp1
HG01168.hp2
HG01884.hp1
others(3): Show 
HG00733.hp1
HG01168.hp2
HG01884.hp1
HG01891.hp1
HG02647.hp1
HG03453.hp1
 intron_variant MODIFIER c.312+4838C>T
c.312+4838C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78980099
chr5:78980108 G
G
 C
C
 132 a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0289
others(129): Show 
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0104
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0317
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0320
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0255
a0001c0005t0032g0117
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0022t0006g0359
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0013g0216
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0303
a0002c0002t0025g0213
a0002c0002t0026g0176
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0045g0302
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0001g0001
a0003c0004t0001g0187
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0011g0007
a0003c0004t0033g0282
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0024g0175
a0007c0012t0032g0180
 133 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(130): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00642.hp2
HG00733.hp2
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp2
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02109.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
NA18612.hp2
NA18906.hp2
NA18941.hp2
NA18943.hp2
NA18946.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18968.hp1
NA18972.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18983.hp2
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18994.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19043.hp2
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19240.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.312+4829C>G
c.312+4829C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78980108
chr5:78980221 T
T
 A
A
 2 a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0004g0096
a0002c0002t0004g0097
 2 NA18951.hp2
NA19001.hp1
NA18951.hp2
NA19001.hp1
 intron_variant MODIFIER c.312+4716A>T
c.312+4716A>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78980221
chr5:78980325 T
T
 C
C
 132 a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0289
others(129): Show 
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0104
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0317
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0320
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0255
a0001c0005t0032g0117
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0022t0006g0359
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0013g0216
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0303
a0002c0002t0025g0213
a0002c0002t0026g0176
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0045g0302
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0001g0001
a0003c0004t0001g0187
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0011g0007
a0003c0004t0033g0282
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0024g0175
a0007c0012t0032g0180
 133 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(130): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00642.hp2
HG00733.hp2
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp2
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02109.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
NA18612.hp2
NA18906.hp2
NA18941.hp2
NA18943.hp2
NA18946.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18968.hp1
NA18972.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18983.hp2
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18994.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19043.hp2
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19240.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.312+4612A>G
c.312+4612A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78980325
chr5:78980401 G
G
 A
A
 1 a0001c0003t0015g0346
a0001c0003t0015g0346
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.312+4536C>T
c.312+4536C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78980401
chr5:78980402 C
C
 T
T
 5 a0001c0001t0002g0261
a0001c0003t0016g0258
a0001c0003t0018g0260
others(2): Show 
a0001c0001t0002g0261
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0007t0036g0259
a0001c0022t0006g0359
 5 HG02717.hp1
HG02818.hp2
HG02922.hp1
others(2): Show 
HG02717.hp1
HG02818.hp2
HG02922.hp1
HG03195.hp1
NA19043.hp2
 intron_variant MODIFIER c.312+4535G>A
c.312+4535G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78980402
chr5:78980413 C
C
 T
T
 109 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(106): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0277
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0007g0250
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0020g0028
a0001c0001t0021g0347
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0003g0050
a0001c0003t0005g0060
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0089
a0001c0003t0018g0057
a0001c0003t0028g0051
a0001c0003t0034g0071
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0069g0273
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0076g0268
a0001c0007t0077g0070
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0017t0002g0088
a0001c0018t0002g0016
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0325
a0002c0002t0006g0014
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0026g0086
a0002c0002t0030g0037
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0066g0355
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0003g0095
a0004c0006t0024g0061
 109 HG00408.hp1
HG00423.hp1
HG00438.hp1
others(106): Show 
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp2
HG01167.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01257.hp1
HG01261.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01993.hp1
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp1
HG02145.hp1
HG02258.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02723.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03579.hp1
HG03669.hp2
HG03834.hp1
HG03927.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18947.hp2
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18983.hp1
NA18984.hp2
NA18988.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19062.hp1
NA19066.hp2
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.312+4524G>A
c.312+4524G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78980413
chr5:78980633 C
C
 T
T
 1 a0001c0019t0022g0233
a0001c0019t0022g0233
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.312+4304G>A
c.312+4304G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78980633
chr5:78980651 A
A
 G
G
 132 a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0289
others(129): Show 
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0104
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0317
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0320
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0255
a0001c0005t0032g0117
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0022t0006g0359
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0013g0216
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0303
a0002c0002t0025g0213
a0002c0002t0026g0176
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0045g0302
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0001g0001
a0003c0004t0001g0187
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0011g0007
a0003c0004t0033g0282
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0024g0175
a0007c0012t0032g0180
 133 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(130): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00642.hp2
HG00733.hp2
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp2
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02109.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
NA18612.hp2
NA18906.hp2
NA18941.hp2
NA18943.hp2
NA18946.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18968.hp1
NA18972.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18983.hp2
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18994.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19043.hp2
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19240.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.312+4286T>C
c.312+4286T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78980651
chr5:78980704 T
T
 C
C
 1 a0001c0001t0001g0321
a0001c0001t0001g0321
 1 NA19074.hp1
NA19074.hp1
 intron_variant MODIFIER c.312+4233A>G
c.312+4233A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78980704
chr5:78980725 A
A
 AGTGTGTG
others(3): Show 
AGTGTGTGTGT
 7 a0001c0001t0007g0115
a0001c0003t0008g0116
a0001c0003t0027g0114
others(4): Show 
a0001c0001t0007g0115
a0001c0003t0008g0116
a0001c0003t0027g0114
a0001c0003t0031g0119
a0001c0003t0073g0099
a0001c0005t0032g0117
a0001c0008t0008g0118
 7 HG02572.hp2
HG02615.hp1
HG02615.hp2
others(4): Show 
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02809.hp1
HG02965.hp1
HG03209.hp1
HG03486.hp1
 intron_variant MODIFIER c.312+4211_312+4212i
others(12): Show 
c.312+4211_312+4212insACACACACAC
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78980725
chr5:78980725 A
A
 AGTGTGTG
others(5): Show 
AGTGTGTGTGTGT
 3 a0001c0003t0035g0357
a0001c0003t0070g0251
a0001c0005t0017g0255
a0001c0003t0035g0357
a0001c0003t0070g0251
a0001c0005t0017g0255
 3 HG02622.hp1
HG02723.hp1
HG02965.hp2
HG02622.hp1
HG02723.hp1
HG02965.hp2
 intron_variant MODIFIER c.312+4211_312+4212i
others(14): Show 
c.312+4211_312+4212insACACACACACAC
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78980725
chr5:78980725 A
A
 AGTGTGTG
others(7): Show 
AGTGTGTGTGTGTGT
 4 a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0006g0254
others(1): Show 
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0006g0254
a0001c0003t0061g0252
 4 HG02647.hp2
HG02895.hp1
HG03516.hp1
others(1): Show 
HG02647.hp2
HG02895.hp1
HG03516.hp1
NA21309.hp2
 intron_variant MODIFIER c.312+4211_312+4212i
others(16): Show 
c.312+4211_312+4212insACACACACACACAC
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78980725
chr5:78980725 A
A
 AGTGTGTG
others(9): Show 
AGTGTGTGTGTGTGTGT
 4 a0001c0001t0002g0005
a0001c0001t0006g0356
a0001c0003t0002g0354
others(1): Show 
a0001c0001t0002g0005
a0001c0001t0006g0356
a0001c0003t0002g0354
a0001c0005t0013g0004
 4 HG02258.hp1
HG03516.hp2
NA19240.hp2
others(1): Show 
HG02258.hp1
HG03516.hp2
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.312+4211_312+4212i
others(18): Show 
c.312+4211_312+4212insACACACACACACACAC
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78980725
chr5:78980725 A
A
 AGTGTGTG
others(11): Show 
AGTGTGTGTGTGTGTGTGT
 2 a0001c0007t0004g0100
a0001c0007t0068g0111
a0001c0007t0004g0100
a0001c0007t0068g0111
 2 HG02976.hp2
HG03540.hp2
HG02976.hp2
HG03540.hp2
 intron_variant MODIFIER c.312+4211_312+4212i
others(20): Show 
c.312+4211_312+4212insACACACACACACACACAC
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78980725
chr5:78980725 A
A
 AGTGTGTG
others(13): Show 
AGTGTGTGTGTGTGTGTGTGT
 1 a0001c0005t0017g0003
a0001c0005t0017g0003
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.312+4211_312+4212i
others(22): Show 
c.312+4211_312+4212insACACACACACACACACACAC
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78980725
chr5:78980734 A
A
 ATGTGTGT
others(1): Show 
ATGTGTGTG
 20 a0001c0001t0001g0335
a0001c0001t0003g0327
a0001c0001t0003g0339
others(17): Show 
a0001c0001t0001g0335
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0007g0333
a0001c0001t0013g0329
a0001c0001t0059g0332
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0003g0334
a0001c0003t0015g0346
a0001c0003t0025g0341
a0001c0003t0046g0343
a0002c0002t0003g0336
a0002c0002t0005g0340
a0003c0004t0007g0331
 20 HG00621.hp2
HG01069.hp1
HG01167.hp2
others(17): Show 
HG00621.hp2
HG01069.hp1
HG01167.hp2
HG01943.hp2
HG01981.hp2
HG02071.hp2
HG02074.hp1
HG02135.hp1
HG02155.hp2
HG03017.hp1
HG03490.hp1
HG03491.hp1
HG03834.hp2
HG03927.hp2
HG04204.hp1
HG04204.hp2
NA18953.hp2
NA18969.hp1
NA19085.hp1
NA20752.hp2
 intron_variant MODIFIER c.312+4195_312+4202d
others(10): Show 
c.312+4195_312+4202dupCACACACA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78980734
chr5:78980734 A
A
 ATGTGTGT
others(3): Show 
ATGTGTGTGTG
 2 a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0256
a0001c0001t0003g0257
 2 NA18968.hp2
NA18994.hp1
NA18968.hp2
NA18994.hp1
 intron_variant MODIFIER c.312+4193_312+4202d
others(12): Show 
c.312+4193_312+4202dupCACACACACA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78980734
chr5:78980734 A
A
 G
G
 132 a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0289
others(129): Show 
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0104
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0317
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0320
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0255
a0001c0005t0032g0117
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0022t0006g0359
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0013g0216
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0303
a0002c0002t0025g0213
a0002c0002t0026g0176
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0045g0302
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0001g0001
a0003c0004t0001g0187
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0011g0007
a0003c0004t0033g0282
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0024g0175
a0007c0012t0032g0180
 133 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(130): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00642.hp2
HG00733.hp2
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp2
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02109.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
NA18612.hp2
NA18906.hp2
NA18941.hp2
NA18943.hp2
NA18946.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18968.hp1
NA18972.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18983.hp2
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18994.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19043.hp2
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19240.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.312+4203T>C
c.312+4203T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78980734
chr5:78980744 G
G
 GTGTGTGT
others(3): Show 
GTGTGTGTGTA
 6 a0001c0001t0002g0261
a0001c0022t0006g0359
a0002c0002t0006g0294
others(3): Show 
a0001c0001t0002g0261
a0001c0022t0006g0359
a0002c0002t0006g0294
a0002c0002t0013g0216
a0002c0002t0033g0217
a0004c0006t0004g0215
 6 HG01168.hp1
HG01255.hp1
HG01496.hp2
others(3): Show 
HG01168.hp1
HG01255.hp1
HG01496.hp2
HG02717.hp1
NA19043.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.312+4192_312+4193i
others(12): Show 
c.312+4192_312+4193insTACACACACA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78980744
chr5:78980744 G
G
 GTGTGTGT
others(5): Show 
GTGTGTGTGTGTA
 80 a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
others(77): Show 
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0317
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0007g0181
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0290
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0003t0002g0320
a0001c0003t0006g0212
a0001c0003t0012g0177
a0001c0003t0022g0178
a0001c0003t0060g0210
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0303
a0002c0002t0025g0213
a0002c0002t0030g0304
a0002c0002t0045g0302
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0067g0203
a0003c0004t0001g0001
a0003c0004t0001g0187
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0011g0007
a0003c0004t0033g0282
a0003c0014t0015g0202
a0004c0006t0004g0188
a0007c0012t0032g0180
 81 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(78): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00544.hp1
HG00544.hp2
HG00621.hp1
HG00642.hp2
HG00733.hp2
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01517.hp1
HG01975.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02280.hp1
HG02293.hp2
HG02698.hp1
HG02698.hp2
HG02735.hp2
HG02738.hp2
HG03225.hp2
HG03471.hp2
HG03654.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
NA18612.hp2
NA18941.hp2
NA18946.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18954.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18968.hp1
NA18972.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18994.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19063.hp2
NA19065.hp2
NA19068.hp2
NA19074.hp1
NA19077.hp2
NA20300.hp2
 intron_variant MODIFIER c.312+4192_312+4193i
others(14): Show 
c.312+4192_312+4193insTACACACACACA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78980744
chr5:78980744 G
G
 GTGTGTGT
others(7): Show 
GTGTGTGTGTGTGTA
 17 a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0002g0104
others(14): Show 
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0002g0104
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0008g0279
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0003t0009g0281
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0007t0036g0259
a0002c0002t0001g0298
a0002c0002t0026g0176
a0004c0006t0024g0175
 17 HG00408.hp2
HG00438.hp2
HG01258.hp1
others(14): Show 
HG00408.hp2
HG00438.hp2
HG01258.hp1
HG01978.hp2
HG02040.hp2
HG02280.hp2
HG02818.hp2
HG02922.hp1
HG03195.hp1
NA18943.hp2
NA18952.hp2
NA18959.hp1
NA18978.hp2
NA18983.hp2
NA18985.hp1
NA19066.hp1
NA19077.hp1
 intron_variant MODIFIER c.312+4192_312+4193i
others(16): Show 
c.312+4192_312+4193insTACACACACACACA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78980744
chr5:78980744 G
G
 GTGTGTGT
others(9): Show 
GTGTGTGTGTGTGTGTA
 3 a0001c0001t0003g0167
a0001c0003t0006g0103
a0001c0015t0027g0102
a0001c0001t0003g0167
a0001c0003t0006g0103
a0001c0015t0027g0102
 3 HG00609.hp1
HG02055.hp2
HG02922.hp2
HG00609.hp1
HG02055.hp2
HG02922.hp2
 intron_variant MODIFIER c.312+4192_312+4193i
others(18): Show 
c.312+4192_312+4193insTACACACACACACACA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78980744
chr5:78980744 G
G
 GTGTGTGT
others(11): Show 
GTGTGTGTGTGTGTGTGTA
 2 a0001c0001t0002g0218
a0001c0001t0006g0219
a0001c0001t0002g0218
a0001c0001t0006g0219
 2 HG03098.hp2
HG03579.hp2
HG03098.hp2
HG03579.hp2
 intron_variant MODIFIER c.312+4192_312+4193i
others(20): Show 
c.312+4192_312+4193insTACACACACACACACACA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78980744
chr5:78980784 T
T
 C
C
 6 a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0007g0352
others(3): Show 
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0007g0352
a0001c0003t0012g0350
a0001c0003t0028g0348
a0001c0005t0017g0353
 6 HG00733.hp1
HG01168.hp2
HG01884.hp1
others(3): Show 
HG00733.hp1
HG01168.hp2
HG01884.hp1
HG01891.hp1
HG02647.hp1
HG03453.hp1
 intron_variant MODIFIER c.312+4153A>G
c.312+4153A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78980784
chr5:78980804 G
G
 C
C
 1 a0002c0002t0019g0248
a0002c0002t0019g0248
 1 HG00673.hp1
HG00673.hp1
 intron_variant MODIFIER c.312+4133C>G
c.312+4133C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78980804
chr5:78980842 G
G
 A
A
 132 a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0289
others(129): Show 
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0104
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0317
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0320
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0255
a0001c0005t0032g0117
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0022t0006g0359
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0013g0216
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0303
a0002c0002t0025g0213
a0002c0002t0026g0176
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0045g0302
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0001g0001
a0003c0004t0001g0187
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0011g0007
a0003c0004t0033g0282
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0024g0175
a0007c0012t0032g0180
 133 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(130): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00642.hp2
HG00733.hp2
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp2
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02109.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
NA18612.hp2
NA18906.hp2
NA18941.hp2
NA18943.hp2
NA18946.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18968.hp1
NA18972.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18983.hp2
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18994.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19043.hp2
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19240.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.312+4095C>T
c.312+4095C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78980842
chr5:78980924 C
C
 T
T
 132 a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0289
others(129): Show 
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0104
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0317
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0320
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0255
a0001c0005t0032g0117
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0022t0006g0359
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0121
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0013g0216
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0303
a0002c0002t0025g0213
a0002c0002t0026g0176
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0045g0302
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0001g0001
a0003c0004t0001g0187
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0011g0007
a0003c0004t0033g0282
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0024g0175
a0007c0012t0032g0180
 133 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(130): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00642.hp2
HG00733.hp2
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp2
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02109.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
NA18612.hp2
NA18906.hp2
NA18941.hp2
NA18943.hp2
NA18946.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18968.hp1
NA18972.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18983.hp2
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18994.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19043.hp2
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19240.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.312+4013G>A
c.312+4013G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78980924
chr5:78980925 TGAATTTC
others(317): Show 
TGAATTTCTAGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG
GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTC
ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC
CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG
TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT
CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA
CAGGCGTGAGCCACCGCGCCCGGCC
 T
T
 305 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(302): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0013g0216
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
a0007c0012t0032g0180
 306 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(303): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18989.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.312+3688_312+4011d
others(2): Show 
c.312+3688_312+4011del
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78980925
chr5:78980938 CT
CT
 C
C
 18 a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0004g0238
others(15): Show 
a0001c0001t0001g0236
a0001c0001t0001g0245
a0001c0001t0004g0238
a0001c0001t0005g0235
a0001c0001t0010g0244
a0001c0001t0011g0242
a0001c0001t0051g0239
a0001c0019t0022g0233
a0002c0002t0001g0345
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0005g0241
a0002c0002t0011g0234
a0002c0002t0013g0240
a0002c0002t0019g0248
a0003c0004t0002g0243
a0004c0006t0016g0221
a0005c0016t0002g0237
 18 HG00558.hp1
HG00673.hp1
HG00673.hp2
others(15): Show 
HG00558.hp1
HG00673.hp1
HG00673.hp2
HG02683.hp2
HG02735.hp1
HG02809.hp2
HG03130.hp1
HG03654.hp2
NA18612.hp1
NA18944.hp2
NA18953.hp1
NA18960.hp2
NA18969.hp2
NA18988.hp2
NA18989.hp2
NA19000.hp1
NA19057.hp2
NA19065.hp1
 intron_variant MODIFIER c.312+3998delA
c.312+3998delA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78980938
chr5:78980989 C
C
 T
T
 1 a0004c0006t0016g0221
a0004c0006t0016g0221
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.312+3948G>A
c.312+3948G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78980989
chr5:78981093 G
G
 A
A
 1 a0002c0002t0005g0340
a0002c0002t0005g0340
 1 NA18969.hp1
NA18969.hp1
 intron_variant MODIFIER c.312+3844C>T
c.312+3844C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78981093
chr5:78981334 C
C
 T
T
 9 a0001c0001t0007g0115
a0001c0003t0008g0116
a0001c0003t0027g0114
others(6): Show 
a0001c0001t0007g0115
a0001c0003t0008g0116
a0001c0003t0027g0114
a0001c0003t0031g0119
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0032g0117
a0001c0008t0002g0120
a0001c0008t0008g0118
 9 HG02572.hp2
HG02615.hp1
HG02615.hp2
others(6): Show 
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02809.hp1
HG02965.hp1
HG02965.hp2
HG03209.hp1
HG03486.hp1
 intron_variant MODIFIER c.312+3603G>A
c.312+3603G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78981334
chr5:78981441 C
C
 T
T
 6 a0001c0003t0002g0013
a0001c0003t0007g0011
a0001c0003t0007g0012
others(3): Show 
a0001c0003t0002g0013
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0018t0002g0016
a0002c0002t0006g0014
a0002c0013t0017g0015
 6 HG01496.hp1
HG01884.hp2
HG02896.hp1
others(3): Show 
HG01496.hp1
HG01884.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG03195.hp2
 intron_variant MODIFIER c.312+3496G>A
c.312+3496G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78981441
chr5:78981887 A
A
 G
G
 1 a0001c0001t0003g0327
a0001c0001t0003g0327
 1 HG00621.hp2
HG00621.hp2
 intron_variant MODIFIER c.312+3050T>C
c.312+3050T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78981887
chr5:78981903 TAGATATG
others(312): Show 
TAGATATGACTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT
GTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC
AAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT
AGCTGGGACTACAGGCGCCCGCCACCGCGCCCAGCTAATTTTTTGTATTT
TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT
GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC
GTGAGCCACCGCGCCCGGCC
 T
T
 174 a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
others(171): Show 
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0317
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0008g0131
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0003t0002g0101
a0001c0003t0002g0253
a0001c0003t0002g0320
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0007g0132
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0255
a0001c0005t0032g0117
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0022t0006g0359
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0013g0216
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0303
a0002c0002t0025g0213
a0002c0002t0026g0176
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0045g0302
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0024g0175
a0006c0020t0003g0127
a0007c0012t0032g0180
 175 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(172): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp2
NA18906.hp2
NA18941.hp2
NA18942.hp2
NA18943.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18968.hp1
NA18972.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18994.hp2
NA18995.hp1
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.312+2715_312+3033d
others(2): Show 
c.312+2715_312+3033del
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78981903
chr5:78981914 C
C
 CT
CT
 8 a0001c0001t0031g0324
a0001c0003t0001g0326
a0001c0003t0001g0344
others(5): Show 
a0001c0001t0031g0324
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0342
a0001c0003t0014g0220
a0001c0003t0015g0346
a0001c0003t0025g0341
a0001c0003t0046g0343
 8 HG01069.hp1
HG01167.hp2
HG02056.hp2
others(5): Show 
HG01069.hp1
HG01167.hp2
HG02056.hp2
HG03130.hp2
HG03490.hp1
HG03491.hp1
HG04204.hp2
NA20752.hp2
 intron_variant MODIFIER c.312+3022dupA
c.312+3022dupA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78981914
chr5:78981914 CT
CT
 C
C
 109 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(106): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0277
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0257
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0007g0250
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0020g0028
a0001c0001t0021g0347
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0003g0050
a0001c0003t0005g0060
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0089
a0001c0003t0018g0057
a0001c0003t0028g0051
a0001c0003t0034g0071
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0069g0273
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0076g0268
a0001c0007t0077g0070
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0017t0002g0088
a0001c0018t0002g0016
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0325
a0002c0002t0006g0014
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0026g0086
a0002c0002t0030g0037
a0002c0002t0038g0006
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0066g0355
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0003g0095
a0004c0006t0024g0061
 109 HG00423.hp1
HG00438.hp1
HG00558.hp2
others(106): Show 
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp2
HG01167.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01257.hp1
HG01261.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01993.hp1
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp1
HG02145.hp1
HG02258.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02723.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03579.hp1
HG03669.hp2
HG03834.hp1
HG03927.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18947.hp2
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18983.hp1
NA18984.hp2
NA18988.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19062.hp1
NA19066.hp2
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.312+3022delA
c.312+3022delA
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78981914
chr5:78982035 T
T
 G
G
 1 a0001c0003t0015g0346
a0001c0003t0015g0346
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.312+2902A>C
c.312+2902A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78982035
chr5:78982125 T
T
 G
G
 1 a0002c0002t0052g0098
a0002c0002t0052g0098
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.312+2812A>C
c.312+2812A>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78982125
chr5:78982293 G
G
 A
A
 1 a0001c0001t0019g0249
a0001c0001t0019g0249
 1 NA19011.hp2
NA19011.hp2
 intron_variant MODIFIER c.312+2644C>T
c.312+2644C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78982293
chr5:78982348 T
T
 C
C
 322 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(319): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0002g0005
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0277
a0001c0001t0002g0317
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0004g0278
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0007g0250
a0001c0001t0007g0333
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0010g0264
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0013g0329
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0028
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0021g0347
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0031g0324
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0059g0332
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0001g0326
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0002g0320
a0001c0003t0002g0338
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0050
a0001c0003t0003g0334
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0007g0132
a0001c0003t0007g0352
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0089
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0012g0350
a0001c0003t0016g0258
a0001c0003t0018g0057
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0028g0051
a0001c0003t0028g0348
a0001c0003t0031g0119
a0001c0003t0034g0071
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0048g0266
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0069g0273
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0010
a0001c0005t0017g0255
a0001c0005t0017g0353
a0001c0005t0032g0117
a0001c0005t0035g0165
a0001c0005t0036g0275
a0001c0005t0074g0073
a0001c0005t0075g0112
a0001c0005t0076g0268
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0007t0068g0111
a0001c0007t0077g0070
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0009t0016g0271
a0001c0009t0016g0272
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0018t0002g0016
a0001c0022t0006g0359
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0003g0336
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0005g0325
a0002c0002t0005g0340
a0002c0002t0006g0014
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0013g0216
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0052
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0086
a0002c0002t0026g0176
a0002c0002t0030g0037
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0038g0006
a0002c0002t0045g0302
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0066g0355
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0003g0095
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0007g0331
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0024g0061
a0004c0006t0024g0175
a0006c0020t0003g0127
a0007c0012t0032g0180
 323 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(320): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18989.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.312+2589A>G
c.312+2589A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78982348
chr5:78982406 A
A
 G
G
 178 a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
others(175): Show 
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0317
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0008g0131
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0320
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0007g0132
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0255
a0001c0005t0032g0117
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0022t0006g0359
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0013g0216
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0176
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0045g0302
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0024g0175
a0006c0020t0003g0127
a0007c0012t0032g0180
 179 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(176): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp2
NA18906.hp2
NA18941.hp2
NA18942.hp2
NA18943.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18968.hp1
NA18972.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18994.hp2
NA18995.hp1
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.312+2531T>C
c.312+2531T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78982406
chr5:78982476 T
T
 C
C
 177 a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
others(174): Show 
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0002g0005
a0001c0001t0002g0104
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0002g0317
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0006g0219
a0001c0001t0007g0115
a0001c0001t0007g0181
a0001c0001t0008g0131
a0001c0001t0008g0279
a0001c0001t0008g0286
a0001c0001t0010g0107
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0011g0105
a0001c0001t0013g0170
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0018g0130
a0001c0001t0020g0146
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0003t0002g0101
a0001c0003t0002g0160
a0001c0003t0002g0253
a0001c0003t0002g0320
a0001c0003t0002g0354
a0001c0003t0006g0103
a0001c0003t0006g0156
a0001c0003t0006g0212
a0001c0003t0006g0254
a0001c0003t0007g0132
a0001c0003t0008g0116
a0001c0003t0009g0281
a0001c0003t0010g0157
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0003t0022g0178
a0001c0003t0027g0114
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0003t0060g0210
a0001c0003t0061g0252
a0001c0003t0070g0251
a0001c0003t0073g0099
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0005t0017g0255
a0001c0005t0032g0117
a0001c0007t0004g0100
a0001c0007t0036g0259
a0001c0008t0002g0120
a0001c0008t0008g0118
a0001c0015t0027g0102
a0001c0022t0006g0359
a0002c0002t0001g0158
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0125
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0006g0126
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0013g0216
a0002c0002t0013g0300
a0002c0002t0014g0106
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0303
a0002c0002t0023g0162
a0002c0002t0025g0213
a0002c0002t0026g0176
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0045g0302
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0067g0203
a0002c0002t0071g0280
a0002c0010t0003g0161
a0002c0010t0003g0322
a0003c0004t0001g0001
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0001g0187
a0003c0004t0002g0128
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0011g0007
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0029g0108
a0003c0004t0029g0109
a0003c0004t0033g0282
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0016g0163
a0004c0006t0024g0175
a0006c0020t0003g0127
a0007c0012t0032g0180
 178 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(175): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp2
NA18906.hp2
NA18941.hp2
NA18942.hp2
NA18943.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18968.hp1
NA18972.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18994.hp2
NA18995.hp1
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.312+2461A>G
c.312+2461A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78982476
chr5:78982592 G
G
 C
C
 6 a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0007g0352
others(3): Show 
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0007g0352
a0001c0003t0012g0350
a0001c0003t0028g0348
a0001c0005t0017g0353
 6 HG00733.hp1
HG01168.hp2
HG01884.hp1
others(3): Show 
HG00733.hp1
HG01168.hp2
HG01884.hp1
HG01891.hp1
HG02647.hp1
HG03453.hp1
 intron_variant MODIFIER c.312+2345C>G
c.312+2345C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78982592
chr5:78982682 G
G
 T
T
 17 a0001c0001t0001g0335
a0001c0001t0003g0256
a0001c0001t0003g0257
others(14): Show 
a0001c0001t0001g0335
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0007g0333
a0001c0001t0013g0329
a0001c0001t0059g0332
a0001c0003t0001g0326
a0001c0003t0002g0338
a0001c0003t0003g0334
a0002c0002t0003g0336
a0002c0002t0005g0340
a0003c0004t0007g0331
 17 HG00621.hp2
HG01943.hp2
HG01981.hp2
others(14): Show 
HG00621.hp2
HG01943.hp2
HG01981.hp2
HG02071.hp2
HG02074.hp1
HG02135.hp1
HG02155.hp2
HG03017.hp1
HG03490.hp1
HG03834.hp2
HG03927.hp2
HG04204.hp1
NA18953.hp2
NA18968.hp2
NA18969.hp1
NA18994.hp1
NA19085.hp1
 intron_variant MODIFIER c.312+2255C>A
c.312+2255C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78982682
chr5:78982685 A
A
 T
T
 1 a0001c0003t0016g0258
a0001c0003t0016g0258
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.312+2252T>A
c.312+2252T>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78982685
chr5:78982734 C
C
 T
T
 2 a0002c0002t0002g0295
a0002c0002t0015g0296
a0002c0002t0002g0295
a0002c0002t0015g0296
 2 NA18968.hp1
NA18994.hp2
NA18968.hp1
NA18994.hp2
 intron_variant MODIFIER c.312+2203G>A
c.312+2203G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78982734
chr5:78982827 G
G
 A
A
 1 a0001c0021t0003g0358
a0001c0021t0003g0358
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.312+2110C>T
c.312+2110C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78982827
chr5:78983190 A
A
 G
G
 30 a0001c0001t0001g0335
a0001c0001t0003g0256
a0001c0001t0003g0257
others(27): Show 
a0001c0001t0001g0335
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0007g0333
a0001c0001t0013g0329
a0001c0001t0021g0347
a0001c0001t0059g0332
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0003g0334
a0001c0003t0007g0352
a0001c0003t0012g0350
a0001c0003t0015g0346
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0046g0343
a0001c0005t0017g0353
a0002c0002t0001g0345
a0002c0002t0003g0336
a0002c0002t0005g0340
a0003c0004t0007g0331
 30 HG00621.hp2
HG00733.hp1
HG01069.hp1
others(27): Show 
HG00621.hp2
HG00733.hp1
HG01069.hp1
HG01167.hp2
HG01168.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02071.hp2
HG02074.hp1
HG02135.hp1
HG02155.hp2
HG02647.hp1
HG02683.hp2
HG03017.hp1
HG03453.hp1
HG03490.hp1
HG03491.hp1
HG03834.hp2
HG03927.hp2
HG04204.hp1
HG04204.hp2
NA18953.hp2
NA18963.hp1
NA18968.hp2
NA18969.hp1
NA18994.hp1
NA19085.hp1
NA20752.hp2
 intron_variant MODIFIER c.312+1747T>C
c.312+1747T>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78983190
chr5:78983410 G
G
 A
A
 1 a0001c0001t0031g0324
a0001c0001t0031g0324
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.312+1527C>T
c.312+1527C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78983410
chr5:78983652 G
G
 A
A
 1 a0001c0001t0001g0110
a0001c0001t0001g0110
 1 NA19062.hp1
NA19062.hp1
 intron_variant MODIFIER c.312+1285C>T
c.312+1285C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78983652
chr5:78983886 G
G
 C
C
 1 a0001c0001t0031g0324
a0001c0001t0031g0324
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.312+1051C>G
c.312+1051C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78983886
chr5:78983937 C
C
 T
T
 8 a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0004g0278
others(5): Show 
a0001c0001t0002g0218
a0001c0001t0002g0261
a0001c0001t0004g0278
a0001c0001t0006g0219
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0007t0036g0259
a0001c0022t0006g0359
 8 HG02622.hp2
HG02717.hp1
HG02818.hp2
others(5): Show 
HG02622.hp2
HG02717.hp1
HG02818.hp2
HG02922.hp1
HG03098.hp2
HG03195.hp1
HG03579.hp2
NA19043.hp2
 intron_variant MODIFIER c.312+1000G>A
c.312+1000G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78983937
chr5:78983997 G
G
 A
A
 107 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(104): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0020g0028
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0003g0050
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0089
a0001c0003t0018g0057
a0001c0003t0028g0051
a0001c0003t0034g0071
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0073g0099
a0001c0005t0017g0010
a0001c0005t0074g0073
a0001c0007t0004g0100
a0001c0007t0077g0070
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0018t0002g0016
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0005g0325
a0002c0002t0006g0014
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0026g0086
a0002c0002t0030g0037
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0066g0355
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0003g0095
a0003c0004t0029g0108
a0003c0004t0029g0109
a0004c0006t0024g0061
 107 HG00408.hp1
HG00423.hp1
HG00438.hp1
others(104): Show 
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp2
HG01167.hp1
HG01175.hp1
HG01257.hp1
HG01261.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01943.hp1
HG01952.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp1
HG02258.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02615.hp2
HG02723.hp2
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG03017.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03471.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp2
HG03834.hp1
HG03927.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18947.hp2
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18978.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18988.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19062.hp1
NA19066.hp1
NA19066.hp2
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA20129.hp2
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.312+940C>T
c.312+940C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78983997
chr5:78984017 T
T
 C
C
 31 a0001c0001t0001g0335
a0001c0001t0003g0256
a0001c0001t0003g0257
others(28): Show 
a0001c0001t0001g0335
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0007g0333
a0001c0001t0013g0329
a0001c0001t0021g0347
a0001c0001t0059g0332
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0334
a0001c0003t0007g0352
a0001c0003t0012g0350
a0001c0003t0015g0346
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0046g0343
a0001c0005t0017g0353
a0002c0002t0001g0345
a0002c0002t0003g0336
a0002c0002t0005g0340
a0003c0004t0007g0331
 31 HG00621.hp2
HG00733.hp1
HG01069.hp1
others(28): Show 
HG00621.hp2
HG00733.hp1
HG01069.hp1
HG01167.hp2
HG01168.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02071.hp2
HG02074.hp1
HG02135.hp1
HG02155.hp2
HG02258.hp1
HG02647.hp1
HG02683.hp2
HG03017.hp1
HG03453.hp1
HG03490.hp1
HG03491.hp1
HG03834.hp2
HG03927.hp2
HG04204.hp1
HG04204.hp2
NA18953.hp2
NA18963.hp1
NA18968.hp2
NA18969.hp1
NA18994.hp1
NA19085.hp1
NA20752.hp2
 intron_variant MODIFIER c.312+920A>G
c.312+920A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78984017
chr5:78984085 G
G
 A
A
 5 a0001c0001t0002g0261
a0001c0003t0016g0258
a0001c0003t0018g0260
others(2): Show 
a0001c0001t0002g0261
a0001c0003t0016g0258
a0001c0003t0018g0260
a0001c0007t0036g0259
a0001c0022t0006g0359
 5 HG02717.hp1
HG02818.hp2
HG02922.hp1
others(2): Show 
HG02717.hp1
HG02818.hp2
HG02922.hp1
HG03195.hp1
NA19043.hp2
 intron_variant MODIFIER c.312+852C>T
c.312+852C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78984085
chr5:78984129 T
T
 C
C
 18 a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0002g0277
others(15): Show 
a0001c0001t0001g0263
a0001c0001t0001g0265
a0001c0001t0002g0277
a0001c0001t0008g0279
a0001c0001t0010g0264
a0001c0001t0031g0324
a0001c0003t0002g0262
a0001c0003t0002g0269
a0001c0003t0002g0270
a0001c0003t0002g0276
a0001c0003t0006g0267
a0001c0003t0006g0274
a0001c0003t0048g0266
a0001c0003t0069g0273
a0001c0005t0036g0275
a0001c0005t0076g0268
a0001c0009t0016g0271
a0001c0009t0016g0272
 18 HG01243.hp2
HG01261.hp2
HG01891.hp2
others(15): Show 
HG01243.hp2
HG01261.hp2
HG01891.hp2
HG02145.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02895.hp2
HG02897.hp1
HG03041.hp1
HG03130.hp2
HG03453.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp2
HG03540.hp1
NA19240.hp1
 intron_variant MODIFIER c.312+808A>G
c.312+808A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78984129
chr5:78984248 T
T
 C
C
 1 a0001c0001t0004g0278
a0001c0001t0004g0278
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.312+689A>G
c.312+689A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78984248
chr5:78984483 C
C
 G
G
 96 a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0289
others(93): Show 
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0209
a0001c0001t0002g0317
a0001c0001t0003g0167
a0001c0001t0003g0190
a0001c0001t0003g0214
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0195
a0001c0001t0005g0208
a0001c0001t0007g0181
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0013g0170
a0001c0001t0014g0189
a0001c0001t0014g0199
a0001c0001t0020g0290
a0001c0001t0021g0173
a0001c0001t0021g0174
a0001c0001t0024g0182
a0001c0001t0025g0316
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0003t0002g0320
a0001c0003t0006g0212
a0001c0003t0009g0281
a0001c0003t0012g0166
a0001c0003t0012g0177
a0001c0003t0022g0178
a0001c0003t0060g0210
a0001c0005t0035g0165
a0002c0002t0001g0183
a0002c0002t0001g0184
a0002c0002t0001g0185
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0179
a0002c0002t0002g0186
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0196
a0002c0002t0003g0197
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0005g0192
a0002c0002t0005g0318
a0002c0002t0006g0191
a0002c0002t0006g0204
a0002c0002t0006g0205
a0002c0002t0006g0206
a0002c0002t0006g0211
a0002c0002t0006g0294
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0193
a0002c0002t0009g0194
a0002c0002t0009g0309
a0002c0002t0013g0216
a0002c0002t0013g0300
a0002c0002t0015g0207
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0303
a0002c0002t0025g0213
a0002c0002t0026g0176
a0002c0002t0030g0304
a0002c0002t0033g0217
a0002c0002t0045g0302
a0002c0002t0057g0284
a0002c0002t0063g0198
a0002c0002t0064g0285
a0002c0002t0067g0203
a0002c0002t0071g0280
a0003c0004t0001g0001
a0003c0004t0001g0187
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0033g0282
a0003c0014t0015g0202
a0004c0006t0004g0188
a0004c0006t0004g0215
a0004c0006t0024g0175
a0007c0012t0032g0180
 97 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(94): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00642.hp2
HG00733.hp2
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp2
HG01517.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02109.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02280.hp1
HG02293.hp2
HG02559.hp2
HG02698.hp1
HG02698.hp2
HG02735.hp2
HG02738.hp2
HG03225.hp2
HG03471.hp2
HG03654.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
NA18612.hp2
NA18941.hp2
NA18943.hp2
NA18946.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18968.hp1
NA18972.hp2
NA18975.hp1
NA18978.hp2
NA18979.hp2
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18994.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19063.hp2
NA19065.hp2
NA19068.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.312+454G>C
c.312+454G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78984483
chr5:78984559 C
C
 A
A
 29 a0001c0001t0001g0335
a0001c0001t0003g0327
a0001c0001t0003g0339
others(26): Show 
a0001c0001t0001g0335
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0007g0333
a0001c0001t0013g0329
a0001c0001t0021g0347
a0001c0001t0059g0332
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0334
a0001c0003t0007g0352
a0001c0003t0012g0350
a0001c0003t0015g0346
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0046g0343
a0001c0005t0017g0353
a0002c0002t0001g0345
a0002c0002t0003g0336
a0002c0002t0005g0340
a0003c0004t0007g0331
 29 HG00621.hp2
HG00733.hp1
HG01069.hp1
others(26): Show 
HG00621.hp2
HG00733.hp1
HG01069.hp1
HG01167.hp2
HG01168.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02071.hp2
HG02074.hp1
HG02135.hp1
HG02155.hp2
HG02258.hp1
HG02647.hp1
HG02683.hp2
HG03017.hp1
HG03453.hp1
HG03490.hp1
HG03491.hp1
HG03834.hp2
HG03927.hp2
HG04204.hp1
HG04204.hp2
NA18953.hp2
NA18963.hp1
NA18969.hp1
NA19085.hp1
NA20752.hp2
 intron_variant MODIFIER c.312+378G>T
c.312+378G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78984559
chr5:78984564 T
T
 C
C
 1 a0001c0001t0008g0279
a0001c0001t0008g0279
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.312+373A>G
c.312+373A>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78984564
chr5:78984633 G
G
 A
A
 42 a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
others(39): Show 
a0001c0001t0001g0289
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0002g0317
a0001c0001t0003g0293
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0008g0286
a0001c0001t0008g0297
a0001c0001t0020g0290
a0001c0001t0025g0316
a0001c0001t0039g0291
a0001c0001t0040g0288
a0001c0003t0002g0320
a0001c0003t0009g0281
a0002c0002t0001g0287
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0005g0318
a0002c0002t0006g0294
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0309
a0002c0002t0013g0300
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0303
a0002c0002t0030g0304
a0002c0002t0045g0302
a0002c0002t0057g0284
a0002c0002t0064g0285
a0002c0002t0071g0280
a0003c0004t0003g0283
a0003c0004t0003g0292
a0003c0004t0033g0282
 42 HG00140.hp1
HG00280.hp1
HG00621.hp1
others(39): Show 
HG00140.hp1
HG00280.hp1
HG00621.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01358.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02109.hp2
HG02135.hp2
HG02280.hp1
HG02738.hp2
HG03654.hp1
NA18612.hp2
NA18941.hp2
NA18946.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18954.hp1
NA18959.hp2
NA18961.hp2
NA18968.hp1
NA18972.hp2
NA18975.hp1
NA18979.hp2
NA18985.hp1
NA18986.hp2
NA18994.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.312+304C>T
c.312+304C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78984633
chr5:78984664 G
G
 A
A
 27 a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
others(24): Show 
a0001c0001t0001g0305
a0001c0001t0001g0315
a0001c0001t0001g0321
a0001c0001t0002g0317
a0001c0001t0003g0301
a0001c0001t0003g0307
a0001c0001t0008g0297
a0001c0001t0025g0316
a0001c0003t0002g0320
a0002c0002t0001g0298
a0002c0002t0001g0299
a0002c0002t0001g0310
a0002c0002t0002g0295
a0002c0002t0002g0312
a0002c0002t0002g0314
a0002c0002t0003g0306
a0002c0002t0003g0319
a0002c0002t0005g0318
a0002c0002t0007g0313
a0002c0002t0008g0311
a0002c0002t0009g0309
a0002c0002t0013g0300
a0002c0002t0015g0296
a0002c0002t0018g0308
a0002c0002t0019g0303
a0002c0002t0030g0304
a0002c0002t0045g0302
 27 HG00280.hp1
HG00621.hp1
HG02040.hp1
others(24): Show 
HG00280.hp1
HG00621.hp1
HG02040.hp1
HG02071.hp1
HG02074.hp2
HG02135.hp2
NA18612.hp2
NA18941.hp2
NA18946.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18954.hp1
NA18959.hp2
NA18961.hp2
NA18968.hp1
NA18979.hp2
NA18985.hp1
NA18986.hp2
NA18994.hp2
NA19001.hp2
NA19002.hp1
NA19003.hp1
NA19068.hp2
NA19074.hp1
 intron_variant MODIFIER c.312+273C>T
c.312+273C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78984664
chr5:78984674 AAAACGAA
others(28): Show 
AAAACGAAAGACAAAGCCACCCGCCCAACCCGGCGG
 A
A
 1 a0002c0010t0003g0322
a0002c0010t0003g0322
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.312+228_312+262del
others(35): Show 
c.312+228_312+262delCCGCCGGGTTGGGCGGGTGGCTTTGTCTTT
CGTTT
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78984674
chr5:78984708 G
G
 T
T
 57 a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
others(54): Show 
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0003g0140
a0001c0001t0003g0159
a0001c0001t0006g0356
a0001c0001t0007g0115
a0001c0001t0008g0113
a0001c0001t0008g0131
a0001c0001t0010g0141
a0001c0001t0010g0147
a0001c0001t0018g0130
a0001c0001t0020g0146
a0001c0003t0002g0160
a0001c0003t0006g0156
a0001c0003t0007g0132
a0001c0003t0008g0116
a0001c0003t0010g0157
a0001c0003t0027g0114
a0001c0003t0031g0119
a0001c0003t0035g0357
a0001c0003t0041g0155
a0001c0005t0032g0117
a0001c0005t0075g0112
a0001c0007t0068g0111
a0001c0008t0002g0120
a0001c0008t0008g0118
a0002c0002t0001g0158
a0002c0002t0002g0125
a0002c0002t0003g0129
a0002c0002t0003g0137
a0002c0002t0006g0126
a0002c0002t0009g0121
a0002c0002t0009g0136
a0002c0002t0009g0138
a0002c0002t0023g0162
a0002c0010t0003g0161
a0003c0004t0001g0124
a0003c0004t0001g0153
a0003c0004t0001g0154
a0003c0004t0002g0128
a0003c0004t0004g0122
a0003c0004t0004g0149
a0003c0004t0004g0150
a0003c0004t0007g0152
a0003c0004t0012g0123
a0003c0004t0014g0164
a0003c0004t0023g0148
a0003c0004t0023g0151
a0003c0004t0049g0139
a0003c0004t0054g0142
a0003c0004t0062g0133
a0003c0004t0072g0323
a0004c0006t0016g0163
a0006c0020t0003g0127
 57 HG00099.hp1
HG00280.hp2
HG00323.hp1
others(54): Show 
HG00099.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00642.hp1
HG00738.hp2
HG01070.hp1
HG01192.hp1
HG01361.hp1
HG01433.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02129.hp2
HG02145.hp2
HG02293.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02886.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03209.hp1
HG03486.hp1
HG03516.hp2
HG03669.hp1
HG03710.hp2
HG03942.hp2
NA18942.hp2
NA18946.hp2
NA18950.hp1
NA18952.hp1
NA18961.hp1
NA18979.hp1
NA18984.hp1
NA18995.hp1
NA19003.hp2
NA19030.hp2
NA19043.hp1
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA20129.hp1
NA20805.hp1
 intron_variant MODIFIER c.312+229C>A
c.312+229C>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78984708
chr5:78984714 G
G
 A
A
 1 a0003c0004t0072g0323
a0003c0004t0072g0323
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.312+223C>T
c.312+223C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78984714
chr5:78984720 G
G
 C
C
 1 a0001c0001t0031g0324
a0001c0001t0031g0324
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.312+217C>G
c.312+217C>G
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78984720
chr5:78984725 G
G
 A
A
 3 a0001c0001t0002g0005
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0001t0002g0005
a0001c0005t0013g0004
a0001c0005t0017g0003
 3 NA18906.hp2
NA19240.hp2
NA21309.hp1
NA18906.hp2
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.312+212C>T
c.312+212C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78984725
chr5:78984770 C
C
 T
T
 107 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
others(104): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0062
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0002g0039
a0001c0001t0002g0092
a0001c0001t0002g0104
a0001c0001t0003g0019
a0001c0001t0003g0021
a0001c0001t0003g0032
a0001c0001t0003g0034
a0001c0001t0003g0063
a0001c0001t0003g0064
a0001c0001t0003g0093
a0001c0001t0004g0009
a0001c0001t0004g0020
a0001c0001t0004g0058
a0001c0001t0004g0083
a0001c0001t0005g0038
a0001c0001t0005g0041
a0001c0001t0005g0075
a0001c0001t0005g0076
a0001c0001t0005g0077
a0001c0001t0008g0030
a0001c0001t0008g0036
a0001c0001t0008g0040
a0001c0001t0008g0065
a0001c0001t0010g0018
a0001c0001t0010g0029
a0001c0001t0010g0107
a0001c0001t0011g0026
a0001c0001t0011g0033
a0001c0001t0011g0046
a0001c0001t0011g0105
a0001c0001t0020g0028
a0001c0001t0034g0072
a0001c0001t0037g0059
a0001c0001t0043g0090
a0001c0001t0044g0091
a0001c0001t0047g0043
a0001c0001t0065g0017
a0001c0003t0001g0047
a0001c0003t0001g0048
a0001c0003t0001g0049
a0001c0003t0002g0013
a0001c0003t0002g0074
a0001c0003t0002g0078
a0001c0003t0002g0082
a0001c0003t0002g0101
a0001c0003t0003g0050
a0001c0003t0005g0060
a0001c0003t0006g0103
a0001c0003t0007g0011
a0001c0003t0007g0012
a0001c0003t0012g0089
a0001c0003t0018g0057
a0001c0003t0028g0051
a0001c0003t0034g0071
a0001c0003t0056g0022
a0001c0003t0058g0045
a0001c0003t0073g0099
a0001c0005t0017g0010
a0001c0005t0074g0073
a0001c0007t0004g0100
a0001c0007t0077g0070
a0001c0015t0027g0102
a0001c0017t0002g0088
a0001c0018t0002g0016
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0085
a0002c0002t0003g0025
a0002c0002t0003g0068
a0002c0002t0004g0079
a0002c0002t0004g0096
a0002c0002t0004g0097
a0002c0002t0005g0042
a0002c0002t0006g0014
a0002c0002t0007g0044
a0002c0002t0007g0081
a0002c0002t0009g0066
a0002c0002t0009g0067
a0002c0002t0009g0080
a0002c0002t0014g0106
a0002c0002t0015g0053
a0002c0002t0019g0052
a0002c0002t0026g0086
a0002c0002t0030g0037
a0002c0002t0038g0006
a0002c0002t0050g0008
a0002c0002t0052g0098
a0002c0002t0055g0094
a0002c0002t0066g0355
a0002c0011t0053g0002
a0002c0013t0017g0015
a0003c0004t0003g0095
a0003c0004t0011g0007
a0003c0004t0029g0108
a0003c0004t0029g0109
a0004c0006t0024g0061
 107 HG00408.hp1
HG00423.hp1
HG00558.hp2
others(104): Show 
HG00408.hp1
HG00423.hp1
HG00558.hp2
HG00609.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp2
HG01167.hp1
HG01175.hp1
HG01257.hp1
HG01261.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01943.hp1
HG01952.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp1
HG02258.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02615.hp2
HG02723.hp2
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG03017.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03471.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp2
HG03834.hp1
HG03927.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18947.hp2
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18978.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18988.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19062.hp1
NA19066.hp1
NA19066.hp2
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA20129.hp2
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.312+167G>A
c.312+167G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78984770
chr5:78984774 C
C
 A
A
 30 a0001c0001t0001g0335
a0001c0001t0003g0327
a0001c0001t0003g0339
others(27): Show 
a0001c0001t0001g0335
a0001c0001t0003g0327
a0001c0001t0003g0339
a0001c0001t0004g0328
a0001c0001t0004g0330
a0001c0001t0004g0337
a0001c0001t0007g0333
a0001c0001t0013g0329
a0001c0001t0021g0347
a0001c0001t0059g0332
a0001c0003t0001g0326
a0001c0003t0001g0344
a0001c0003t0002g0338
a0001c0003t0002g0342
a0001c0003t0002g0349
a0001c0003t0002g0351
a0001c0003t0002g0354
a0001c0003t0003g0334
a0001c0003t0007g0352
a0001c0003t0012g0350
a0001c0003t0015g0346
a0001c0003t0025g0341
a0001c0003t0028g0348
a0001c0003t0046g0343
a0001c0005t0017g0353
a0002c0002t0001g0345
a0002c0002t0003g0336
a0002c0002t0005g0325
a0002c0002t0005g0340
a0003c0004t0007g0331
 30 HG00438.hp1
HG00621.hp2
HG00733.hp1
others(27): Show 
HG00438.hp1
HG00621.hp2
HG00733.hp1
HG01069.hp1
HG01167.hp2
HG01168.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02071.hp2
HG02074.hp1
HG02135.hp1
HG02155.hp2
HG02258.hp1
HG02647.hp1
HG02683.hp2
HG03017.hp1
HG03453.hp1
HG03490.hp1
HG03491.hp1
HG03834.hp2
HG03927.hp2
HG04204.hp1
HG04204.hp2
NA18953.hp2
NA18963.hp1
NA18969.hp1
NA19085.hp1
NA20752.hp2
 intron_variant MODIFIER c.312+163G>T
c.312+163G>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78984774
chr5:78984848 C
C
 T
T
 1 a0002c0002t0038g0006
a0002c0002t0038g0006
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.312+89G>A
c.312+89G>A
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78984848
chr5:78984880 C
C
 G
G
 3 a0001c0001t0002g0005
a0001c0005t0013g0004
a0001c0005t0017g0003
a0001c0001t0002g0005
a0001c0005t0013g0004
a0001c0005t0017g0003
 3 NA18906.hp2
NA19240.hp2
NA21309.hp1
NA18906.hp2
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.312+57G>C
c.312+57G>C
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78984880
chr5:78984900 G
G
 GGGCGGGG
others(11): Show 
GGGCGGGGGCGGCGCGGGC
 1 a0002c0002t0066g0355
a0002c0002t0066g0355
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.312+19_312+36dupGC
others(16): Show 
c.312+19_312+36dupGCCCGCGCCGCCCCCGCC
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78984900
chr5:78984908 G
G
 A
A
 2 a0001c0001t0006g0356
a0001c0003t0035g0357
a0001c0001t0006g0356
a0001c0003t0035g0357
 2 HG02723.hp1
HG03516.hp2
HG02723.hp1
HG03516.hp2
 intron_variant MODIFIER c.312+29C>T
c.312+29C>T
ARSB ENSG00000113273.17 transcript ENST00000264914.10 protein_coding 1/7 chr5 78984908

  • GeneCards
  • OpenTarget
  • The Human Protein Atlas
  • Gnomad v4.1.0
  • PhewebJP (Japan)
  • UKB-TOPMed (UMich) (UK and US)
  • FinnGen r11 (Finland)
  • KoGES (Korean)
  • Mouse Phenotype
  • Zebra Phenotype
  • TogoVar

  • DNA
  • Satellite
  • All Snps 1.4.2
  • RC
  • snRNA
  • SINE
  • GC %
  • Simple_repeat
  • RNA
  • Retroposon
  • Unknown
  • Low_complexity
  • LINE
  • scRNA
  • CpG Islands
  • Phastcons (20 way)
  • srpRNA
  • Common Snps 1.4.2
  • rRNA
  • LTR
  • tRNA

  • Axiom Genome-Wide Array (Japonica Array V1)
  • Axiom Genome-Wide Array (Japonica Array V2)
  • Axiom Genome-Wide ASI Array V1 (ASI V1)
​

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